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Number of items: 1070.
A
Aartsma-Rus, A;
Straub, V;
Hemmings, R;
Haas, M;
Schlosser-Weber, G;
Stoyanova-Beninska, V;
Mercuri, E;
... Balabanov, P; + view all
(2017)
Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.
[Review].
Nucleic Acid Ther
10.1089/nat.2017.0682.
(In press).
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Abarrategi, A;
Foster, K;
Hamilton, A;
Mian, SA;
Passaro, D;
Gribben, J;
Mufti, G;
(2017)
Versatile humanized niche model enables study of normal and malignant human hematopoiesis.
Journal of Clinical Investigation
, 127
(2)
pp. 543-548.
10.1172/JCI89364.
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Abdul-Razak, HH;
Rocca, C;
Howe, SJ;
Alonso-Ferrero, ME;
Wang, J;
Gabriel, R;
Bartholomae, C;
... Yanez-Munoz, RJ; + view all
(2017)
Molecular Evidence of Ex Vivo Gene Editing in a Mouse Model of Immunodeficiency.
Presented at: 20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT), Washington, DC, United States.
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Abera, M;
Tesfaye, M;
Girma, T;
Hanlon, C;
Andersen, GS;
Wells, JC;
Admassu, B;
... Kaestel, P; + view all
(2017)
Relation between body composition at birth and child development at 2 years of age: a prospective cohort study among Ethiopian children.
European Journal of Clinical Nutrition
, 71
(12)
pp. 1411-1417.
10.1038/ejcn.2017.129.
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Abraham, BJ;
Hnisz, D;
Weintraub, AS;
Kwiatkowski, N;
Li, CH;
Li, Z;
Weichert-Leahey, N;
... Young, RA; + view all
(2017)
Small genomic insertions form enhancers that misregulate oncogenes.
Nature Communications
, 8
, Article 14385. 10.1038/ncomms14385.
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Achermann, JC;
Schwabe, J;
Fairall, L;
Chatterjee, K;
(2017)
Genetic disorders of nuclear receptors.
Journal of Clinical Investigation
, 127
(4)
pp. 1181-1192.
10.1172/JCI88892.
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Adler, AS;
Mizrahi, RA;
Spindler, MJ;
Adams, MS;
Asensio, MA;
Edgar, RC;
Leong, J;
... Johnson, DS; + view all
(2017)
Rare, high-affinity anti-pathogen antibodies from human repertoires, discovered using microfluidics and molecular genomics.
mAbs
, 9
(8)
pp. 1282-1296.
10.1080/19420862.2017.1371383.
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Adler, S;
Lorio, S;
Jacques, TS;
Benova, B;
Gunny, R;
Cross, JH;
Baldeweg, T;
(2017)
Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI.
NeuroImage: Clinical
, 15
pp. 95-105.
10.1016/j.nicl.2017.04.017.
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Adler, S;
Wagstyl, K;
Gunny, R;
Ronan, L;
Carmichael, D;
Cross, JH;
Fletcher, PC;
(2017)
Novel surface features for automated detection of focal cortical dysplasias in paediatric epilepsy.
NeuroImage: Clinical
, 14
pp. 18-27.
10.1016/j.nicl.2016.12.030.
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Adler, SBK;
(2017)
Cortical Morphology and MRI Signal Intensity Analysis in Paediatric Epilepsy.
Doctoral thesis (Ph.D), UCL (University College London).
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Admassu, B;
Wells, JCK;
Girma, T;
Andersen, GS;
Owino, V;
Belachew, T;
Michaelsen, KF;
... Kaestel, P; + view all
(2017)
Body composition at birth and height at 2 years: A prospective cohort study among children in Jimma, Ethiopia.
Pediatric Research
10.1038/pr.2017.59.
(In press).
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Agliardi, Giulia;
(2017)
Development of a Chimeric Antigen Receptor (CAR) - based T cell therapy for glioblastoma.
Doctoral thesis (Ph.D), UCL (University College London).
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Ahmad, T;
Bouwman, RA;
Grigoras, I;
Aldecoa, C;
Hofer, C;
Hoeft, A;
Holt, P;
... Wildes, T; + view all
(2017)
Global patient outcomes after elective surgery: prospective cohort study in 27 low-, middle- and high-income countries The International Surgical Outcomes Study group.
British Journal of Anaesthesia
, 117
(5)
pp. 601-609.
10.1093/bja/aew316.
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Ajami, S;
(2017)
The Use of PEEK as a Material for Shoulder Arthroplasty.
Doctoral thesis , UCL (University College London).
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Al Shahrani, M;
Heales, S;
Hargreaves, I;
Orford, M;
(2017)
Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease.
Journal Of Clinical Medicine
, 6
(11)
, Article 100. 10.3390/jcm6110100.
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Al-Olabi, L;
Polubothu, S;
Dowsett, K;
Andrews, KA;
Stadnik, P;
Joseph, AP;
Knox, R;
... Kinsler, VA; + view all
(2017)
C2.2 Postzygotic activating variants in mapk pathway genes cause intracranial and extracranial vascular malformations that respond to targeted inhibition.
Presented at: Great Ormond Street Hospital Conference, London, UK.
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Aldridge, VK;
Dovey, TM;
Wade, A;
(2017)
Assessing Test-Retest Reliability of Psychological Measures Persistent Methodological Problems.
European Psychologist
, 22
(4)
pp. 207-218.
10.1027/1016-9040/a000298.
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Allin, B;
Long, AM;
Gupta, A;
Knight, M;
Lakhoo, K;
Kazmierski, M;
Kenny, S;
... Ragazzi, S; + view all
(2017)
A UK wide cohort study describing management and outcomes for infants with surgical Necrotising Enterocolitis.
Scientific Reports
, 7
, Article 41149. 10.1038/srep41149.
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Alonso-Ferrero, ME;
van Til, NP;
Bartolovic, K;
Mata, MF;
Wagemaker, G;
Moulding, D;
Williams, DA;
... Howe, SJ; + view all
(2017)
Enhancement of mouse hematopoietic stem/progenitor cell function via transient gene delivery using integration-deficient lentiviral vectors.
Exp Hematol
10.1016/j.exphem.2017.09.003.
(In press).
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Alsubki, RA;
(2017)
Editing T cell specificity.
Doctoral thesis , UCL (University College London).
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Alvarez Ferreira, IA;
(2017)
Functional and structural organisation of the visual system in human albinism.
Doctoral thesis , UCL (University College London).
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Alvizi, L;
Ke, X;
Brito, LA;
Seselgyte, R;
Moore, GE;
Stanier, P;
Passos-Bueno, MR;
(2017)
Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects.
Scientific Reports
, 7
, Article 244. 10.1038/s41598-017-02721-0.
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Alzubi, J;
Pallant, C;
Mussolino, C;
Howe, SJ;
Thrasher, AJ;
Cathomen, T;
(2017)
Targeted genome editing restores T cell differentiation in a humanized X-SCID pluripotent stem cell disease model.
Scientific Reports
, 7
(1)
, Article 12475. 10.1038/s41598-017-12750-4.
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Amicosante, M;
D Ambrosio, L;
Munoz, M;
Mello, FCDQ;
Tebruegge, M;
Chegou, NN;
Seghrouchni, F;
... Singh, V; + view all
(2017)
Current use and acceptability of novel diagnostic tests for active tuberculosis: A worldwide survey.
Jornal Brasileiro de Pneumologia
, 43
(5)
pp. 380-392.
10.1590/s1806-37562017000000219.
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Amin, S;
Lux, A;
Calder, N;
Laugharne, M;
Osborne, J;
O'callaghan, F;
(2017)
Causes of mortality in individuals with tuberous sclerosis complex.
Dev Med Child Neurol
, 59
(6)
pp. 612-617.
10.1111/dmcn.13352.
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Amin, S;
Lux, A;
Khan, A;
O'Callaghan, F;
(2017)
Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex.
Int Sch Res Notices
, 2017
, Article 8404378. 10.1155/2017/8404378.
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Amin, S;
Slaney, K;
O'Callaghan, FJ;
(2017)
Musculoskeletal involvement in tuberous sclerosis.
Archives of Disease in Childhood
, 102
(2)
p. 178.
10.1136/archdischild-2016-310980.
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Amodeo, V;
A, D;
Betts, J;
Bartesaghi, S;
Zhang, Y;
Richard-Londt, A;
Ellis, M;
... Salomoni, P; + view all
(2017)
A PML/Slit Axis Controls Physiological Cell Migration and Cancer Invasion in the CNS.
Cell Reports
, 20
(2)
pp. 411-426.
10.1016/j.celrep.2017.06.047.
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Anderson, J;
(2017)
Unleashing the immune response against childhood solid cancers.
Pediatric Blood & Cancer
, 64
(10)
, Article e26548. 10.1002/pbc.26548.
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Antony, D;
Nampoory, N;
Bacchelli, C;
Melhem, M;
Wu, K;
James, CT;
Beales, PL;
... Alsmadi, O; + view all
(2017)
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.
[Review].
European Journal of Medical Genetics
, 60
(12)
pp. 658-666.
10.1016/j.ejmg.2017.08.019.
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Apps, JR;
Martinez-Barbera, JP;
(2017)
Genetically engineered mouse models of craniopharyngioma: an opportunity for therapy development and understanding of tumor biology.
Brain Pathology
, 27
(3)
pp. 364-369.
10.1111/bpa.12501.
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Aragao-Filho, WC;
Shejtman, A;
Zinicola, M;
Siler, U;
Reichenbach, J;
Gaspar, HB;
Thrasher, A;
... Condino-Neto, A; + view all
(2017)
Development of a pCCLChim Lentiviral Vector for Gene Therapy of Patients with Chronic Granulomatous Disease (CGD) due to p47-phox Deficiency.
Presented at: Annual Meeting of the American Academy of Allergy, Asthma and Immunology (AAAAI), Atlanta, Georgia, USA.
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Arber, C;
Angelova, PR;
Wiethoff, S;
Tsuchiya, Y;
Mazzacuva, F;
Preza, E;
Bhatia, KP;
... Wray, S; + view all
(2017)
iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.
PLoS One
, 12
(9)
, Article e0184104. 10.1371/journal.pone.0184104.
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Archer, G;
Pinto Pereira, S;
Power, C;
(2017)
Child maltreatment as a predictor of adult physical functioning in a prospective British birth cohort.
BMJ Open
, 7
(10)
, Article e017900. 10.1136/bmjopen-2017-017900.
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Arichi, T;
Whitehead, K;
Barone, G;
Pressler, R;
Padormo, F;
Edwards, AD;
Fabrizi, L;
(2017)
Localization of spontaneous bursting neuronal activity in the preterm human brain with simultaneous EEG-fMRI.
eLIFE
, 6
, Article e27814. 10.7554/eLife.27814.
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Armenteros-Monterroso, Elena;
(2017)
Investigating reptin function in acute myeloid leukaemia.
Doctoral thesis (Ph.D), UCL (University College London).
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Arno, G;
Carss, KJ;
Hull, S;
Zihni, C;
Robson, AG;
Fiorentino, A;
Hardcastle, AJ;
... Yu, P; + view all
(2017)
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
The American Journal of Human Genetics
, 100
(2)
pp. 334-342.
10.1016/j.ajhg.2016.12.014.
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Aronson, S;
Mythen, MG;
(2017)
Perioperative Management of High-Risk Patients Going Beyond "Avoid Hypoxia and Hypotension".
[Editorial comment].
Journal of the American Medical Association (JAMA)
, 318
(14)
pp. 1330-1332.
10.1001/jama.2017.13699.
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Arthurs, OJ;
Hutchinson, JC;
Sebire, NJ;
(2017)
Current issues in postmortem imaging of perinatal and forensic childhood deaths.
Forensic Science, Medicine, and Pathology
, 13
(1)
pp. 58-66.
10.1007/s12024-016-9821-x.
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Aschard, H;
Kang, JH;
Iglesias, AI;
Hysi, P;
Bailey, JNC;
Khawaja, AP;
Allingham, RR;
... Pasquale, LR; + view all
(2017)
Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.
European Journal of Human Genetics volume
, 25
(11)
pp. 1261-1267.
10.1038/ejhg.2017.136.
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Autuori, MC;
Pai, YJ;
Stuckey, DJ;
Savery, D;
Marconi, AM;
Massa, V;
Lythgoe, MF;
... Greene, NDE; + view all
(2017)
Use of high-frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice.
Prenatal Diagnosis
, 37
(3)
pp. 273-281.
10.1002/pd.5004.
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Azarian, T;
Grant, LR;
Georgieva, M;
Hammitt, LL;
Reid, R;
Bentley, SD;
Goldblatt, D;
... Lipsitch, M; + view all
(2017)
Pneumococcal protein antigen serology varies with age and may predict antigenic profile of colonizing isolates.
Journal of Infectious Diseases
, 215
(5)
pp. 713-722.
10.1093/infdis/jiw628.
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Bacchelli, C;
Moretti, FA;
Carmo, M;
Adams, S;
Stanescu, HC;
Pearce, K;
Madkaikar, M;
... Gaspar, HB; + view all
(2017)
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.
Journal of Allergy and Clinical Immunology
, 139
(2)
pp. 634-642.
10.1016/j.jaci.2016.05.036.
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Bachmann, C;
Jungbluth, H;
Muntoni, F;
Manzur, AY;
Zorzato, F;
Treves, S;
(2017)
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Human Molecular Genetics
, 26
(2)
pp. 320-332.
10.1093/hmg/ddw388.
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Bahous, RH;
Jadavji, NM;
Deng, L;
Cosin-Tomas, M;
Lu, J;
Malysheva, O;
Leung, K-Y;
... Rozen, R; + view all
(2017)
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring.
HUMAN MOLECULAR GENETICS
, 26
(5)
pp. 888-900.
10.1093/hmg/ddx004.
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Bailey, H;
Thompson, L;
Childs, T;
Collins, IJ;
Tostevin, A;
Goodall, R;
Goetghebuer, T;
... Judd, A; + view all
(2017)
Erratum to: Safety of zidovudine/lamivudine scored tablets in children with HIV infection in Europe and Thailand.
European Journal of Clinical Pharmacology
, 73
(4)
p. 469.
10.1007/s00228-017-2201-y.
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Bailey, H;
Turkova, A;
Thorne, C;
(2017)
Syphilis, hepatitis C and HIV in Eastern Europe.
Current Opinion in Infectious Diseases
, 30
(1)
pp. 93-100.
10.1097/QCO.0000000000000326.
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Bamber, Andrew Richard;
(2017)
A proteomic approach to determining cause of death in sudden unexpected death in infancy (SUDI).
Doctoral thesis (M.D(Res)), UCL (University College London).
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Bampoe, S;
Odor, PM;
Dushianthan, A;
Bennett-Guerrero, E;
Cro, S;
Gan, TJ;
Grocott, MPW;
... Burdett, E; + view all
(2017)
Perioperative administration of buffered versus non-buffered crystalloid intravenous fluid to improve outcomes following adult surgical procedures.
Cochrane Database of Systematic Reviews
, 2017
(9)
, Article CD004089. 10.1002/14651858.CD004089.pub3.
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Bann, D;
Johnson, W;
Li, L;
Kuh, D;
Hardy, RJ;
(2017)
Socioeconomic inequalities in body mass index across adulthood: coordinated analyses of individual participant data from three British birth cohort studies initiated in 1946, 1958 and 1970.
PLOS Medicine
, 14
(1)
, Article e1002214. 10.1371/journal.pmed.1002214.
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Baranski Lamback, E;
Morandi, G;
Rapti, E;
Christov, G;
Brogan, PA;
Hindmarsh, P;
(2017)
Addison's disease presenting with perimyocarditis.
Journal of Pediatric Endocrinology and Metabolism
, 31
(1)
pp. 101-105.
10.1515/jpem-2017-0278.
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Barisa, M;
Kramer, AM;
Majani, Y;
Moulding, D;
Saraiva, L;
Bajaj-Elliott, M;
Anderson, J;
(2017)
E. coli promotes human Vγ9Vδ2 T cell transition from cytokine-producing bactericidal effectors to professional phagocytic killers in a TCR-dependent manner.
Science Reports
, 7
(1)
, Article 2805. 10.1038/s41598-017-02886-8.
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Barisa, Marta;
(2017)
Human peripheral γδT cell phenotypic and functional shift in response to stimulation with E.coli.
Doctoral thesis (Ph.D), UCL (University College London).
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Barona, M;
Taborelli, E;
Corfield, F;
Pawlby, S;
Easter, A;
Schmidt, U;
Treasure, J;
(2017)
Neurobehavioural and cognitive development in infants born to mothers with eating disorders.
Journal of Child Psychology and Psychiatry and Allied Disciplines
, 58
(8)
pp. 931-938.
10.1111/jcpp.12736.
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Barrett, DW;
Kethees, A;
Thrasivoulou, C;
Mata, A;
Virasami, A;
Sebire, NJ;
Engels, AC;
... Chowdhury, TT; + view all
(2017)
Trauma induces overexpression of Cx43 in human fetal membrane defects.
Prenatal Diagnosis
, 37
(9)
pp. 899-906.
10.1002/pd.5104.
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Barroeta Seijas, AB;
Simonetti, S;
Vitale, S;
Runci, D;
Quinci, AC;
Soriani, A;
Criscuoli, M;
... Di Rosa, F; + view all
(2017)
GM-CSF Inhibits c-Kit and SCF Expression by Bone Marrow-Derived Dendritic Cells.
Frontiers in Immunology
, 8
, Article 147. 10.3389/fimmu.2017.00147.
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Baruteau, J;
Jameson, E;
Morris, AA;
Chakrapani, A;
Santra, S;
Vijay, S;
Kocadag, H;
... Davison, JE; + view all
(2017)
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Journal of Inherited Metabolic Disease
, 40
(3)
pp. 357-368.
10.1007/s10545-017-0022-x.
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Baruteau, J;
Waddington, SN;
Alexander, IE;
Gissen, P;
(2017)
Delivering efficient liver-directed AAV-mediated gene therapy.
Gene Therapy
, 24
(5)
pp. 263-264.
10.1038/gt.2016.90.
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Baruteau, J;
Waddington, SN;
Alexander, IE;
Gissen, P;
(2017)
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.
Journal of Inherited Metabolic Disease
, 40
(4)
pp. 497-517.
10.1007/s10545-017-0053-3.
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Baruteau, JC;
(2017)
A gene therapy approach for Argininosuccinic aciduria.
Doctoral thesis , UCL (University College London).
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Basatemur, E;
Horsfall, L;
Marston, L;
Rait, G;
Sutcliffe, A;
(2017)
Trends in the Diagnosis of Vitamin D Deficiency.
Pediatrics
, 139
(3)
, Article e20162748. 10.1542/peds.2016-2748.
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Basatemur, E;
Hunter, R;
Horsfall, L;
Sutcliffe, A;
Rait, G;
(2017)
Costs of vitamin D testing and prescribing among children in primary care.
European Journal of Pediatrics
, 176
(10)
pp. 1405-1409.
10.1007/s00431-017-2986-9.
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Basso-Ricci, L;
Scala, S;
Milani, R;
Migliavacca, M;
Rovelli, A;
Bernardo, ME;
Ciceri, F;
... Biasco, L; + view all
(2017)
Multiparametric Whole Blood Dissection: A one-shot comprehensive picture of the human hematopoietic system.
Cytometry Part A
, 91
(10)
pp. 952-965.
10.1002/cyto.a.23148.
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Bathelt, J;
Dale, N;
de Haan, M;
(2017)
Event-related potential response to auditory social stimuli, parent-reported social communicative deficits and autism risk in school-aged children with congenital visual impairment.
Developmental Cognitive Neuroscience
, 27
pp. 10-18.
10.1016/j.dcn.2017.07.003.
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Batllori, M;
Molero-Luis, M;
Ormazabal, A;
Casado, M;
Sierra, C;
Garcia-Cazorla, A;
Kurian, M;
... Artuch, R; + view all
(2017)
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Nature Protocols
, 12
(11)
pp. 2359-2375.
10.1038/nprot.2017.103.
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Battersby, AC;
Braggins, H;
Pearce, MS;
Cale, CM;
Burns, SO;
Hackett, S;
Hughes, S;
... Gennery, AR; + view all
(2017)
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom.
Journal of Allergy and Clinical Immunology
, 140
(2)
628-630.e6.
10.1016/j.jaci.2017.02.029.
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Battersby, AC;
Martin, AJ;
Tarn, J;
Ng, FW;
Cale, CM;
Goldblatt, D;
Gennery, AR;
(2017)
Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK.
Journal of Clinical Immunology
, 37
(3)
pp. 279-281.
10.1007/s10875-017-0384-8.
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Baud, A;
Wessely, F;
Mazzacuva, F;
McCormick, J;
Camuzeaux, S;
Heywood, WE;
Little, D;
... Mills, K; + view all
(2017)
Multiplex High-Throughput Targeted Proteomic Assay To Identify Induced Pluripotent Stem Cells.
Analytical Chemistry
, 89
(4)
pp. 2440-2448.
10.1021/acs.analchem.6b04368.
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Baugh, J;
Bartels, U;
Leach, J;
Jones, B;
Chaney, B;
Warren, KE;
Kirkendall, J;
... Fouladi, M; + view all
(2017)
The international diffuse intrinsic pontine glioma registry: an infrastructure to accelerate collaborative research for an orphan disease.
Journal of Neuro-Oncology
, 132
(2)
pp. 323-331.
10.1007/s11060-017-2372-5.
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Baumholtz, AI;
Simard, A;
Nikolopoulou, E;
Oosenbrug, M;
Collins, MM;
Piontek, A;
Krause, G;
... Ryan, AK; + view all
(2017)
Claudins are essential for cell shape changes and convergent extension movements during neural tube closure.
Developmental Biology
, 428
(1)
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Presented at: Local Area Research + Intelligence Association (LARIA) Meeting, Norwich, England.
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BMJ Open
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Age and Aging
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A gene therapy approach to Childhood Parkinsonism.
Doctoral thesis , UNSPECIFIED.
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TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
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Experiences and Preferences for End-of-Life Care for Young Adults with Cancer and Their Informal Carers: A Narrative Synthesis.
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Factors Influencing The Provision And Clinical Usage Of Umbilical Cord Blood Units As A Graft Source In Unrelated Haematopoietic Stem Cell Transplantation.
Doctoral thesis , UCL (University College London).
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EBioMedicine
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A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits.
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A qualitative feasibility study to inform a randomised controlled trial of fluid bolus therapy in septic shock.
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Genome Editing and Muscle Stem Cells as a Therapeutic Tool for Muscular Dystrophies.
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Iron Status at Age 6 Months in Colombian Infants Exclusively Breast-fed for 4-5 Versus 6 Months.
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Nature Communications
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Molecular Therapy - Nucleic Acids
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(2017)
Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications.
Annals of the Rheumatic Diseases
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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PLoS One
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Liquid chromatography-tandem mass spectrometry for the simultaneous quantitation of ceftriaxone, metronidazole and hydroxymetronidazole in plasma from seriously ill, severely malnourished children.
Wellcome Open Research
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Hemoglobin concentration, total hemoglobin mass and plasma volume in patients: implications for anemia.
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Total haemoglobin mass, but not haemoglobin concentration, is associated with preoperative cardiopulmonary exercise testing (CPET) derived oxygen consumption variables.
British Journal of Anaesthesia
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
American Journal of Human Genetics
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10.1016/j.ajhg.2017.01.013.
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Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study.
BMC Pregnancy and Childbirth
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Mapping effective connectivity in the human brain with concurrent intracranial electrical stimulation and BOLD-fMRI.
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Numerical and Experimental Study of Mechanisms Involved in Boiling Histotripsy.
Ultrasound in Medicine & Biology
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10.1016/j.ultrasmedbio.2017.08.938.
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α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca(2+) homeostasis and mitochondrial ATP production.
Acta Neuropathol
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Evaluation of record linkage of two large administrative databases in a middle income country: stillbirths and notifications of dengue during pregnancy in Brazil.
BMC Medical Informatics and Decision Making
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T Cell Gene Therapy Corrects Humoral and Cytotoxic Defects in X-Linked Lymphoproliferative Disease (XLP).
Presented at: 20th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT), Washington, DC, United States.
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Goddings, A-L;
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Systematic review of effectiveness of universal self-regulation-based interventions and their effects on distal health and social outcomes in children and adolescents: review protocol.
Systematic Reviews
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An overview of the therapeutic potential of regenerative medicine in cutaneous wound healing.
International Wound Journal
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Treatment of Juvenile Dermatomyositis: An Update.
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Group clinics for young adults with diabetes in an ethnically diverse, socioeconomically deprived setting (TOGETHER study): protocol for a realist review, co-design and mixed methods, participatory evaluation of a new care model.
BMJ Open
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Genetics in Medicine
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Genetics in Medicine
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Parker, CS;
(2017)
Human brain networks: consensus, reproducibility, inter-modal comparison and epilepsy pathology.
Doctoral thesis , UCL (University College London).
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Dihanich, S;
Anderson, GW;
Wong, AM;
Brooks, HR;
Abeti, R;
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Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.
Acta Neuropathologica Communications
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Bioengineering of Humanized Bone Marrow Microenvironments in Mouse and Their Visualization by Live Imaging.
Journal of Visualized Experiments
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Increased Vascular Permeability in the Bone Marrow Microenvironment Contributes to Disease Progression and Drug Response in Acute Myeloid Leukemia.
Cancer Cell
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What is broad-range 16S rDNA PCR?
Archives of Disease in Childhood: Education and Practice Edition
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Patel, A;
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Genes and pathways in optic fissure closure.
Seminars in Cell and Developmental Biology
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Patel, Aysha;
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Development of T cell based therapeutic strategies for childhood cancer neuroblastoma.
Doctoral thesis (Ph.D), UCL (University College London).
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Patterson, MC;
Clayton, P;
Gissen, P;
Anheim, M;
Bauer, P;
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.
Neurol Clin Pract
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A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders.
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Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
BMC Neurology
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Ret receptor tyrosine kinase sustains proliferation and tissue maturation in intestinal epithelia.
The EMBO Journal
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Child Maltreatment and Adult Living Standards at 50 Years.
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Update on Foregut Molecular embryology and Role of Regenerative Medicine Therapies.
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Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.
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UK Mother to Child HIV Transmission Rates Continue to Decline: 2012-2014.
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