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Number of items: 121.
A
Abarrategi, A;
Tornin, J;
Martinez-Cruzado, L;
Hamilton, A;
Martinez-Campos, E;
Rodrigo, JP;
González, MV;
... Rodriguez, R; + view all
(2016)
Osteosarcoma: Cells-of-Origin, Cancer Stem Cells, and Targeted Therapies.
Stem Cells International
, 2016
, Article 3631764. 10.1155/2016/3631764.
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Adams, HHH;
Hibar, DP;
Chouraki, V;
Stein, JL;
Nyquist, PA;
Renteria, ME;
Trompet, S;
... Thompson, PM; + view all
(2016)
Novel genetic loci underlying human intracranial volume identified through genome-wide association.
Nature Neuroscience
, 19
(12)
pp. 1569-1582.
10.1038/nn.4398.
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Aflatounian, M;
Smith, H;
Farahani, F;
Tofighi Naeem, A;
Straatman-Iwanowska, A;
Zoghi, S;
Khatri, U;
... Rezaei, N; + view all
(2016)
Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.
European Journal of Medical Genetics
, 59
(4)
pp. 237-239.
10.1016/j.ejmg.2016.01.005.
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Ansari, M;
Rainger, J;
Hanson, IM;
Williamson, KA;
Sharkey, F;
Harewood, L;
Sandilands, A;
... FitzPatrick, DR; + view all
(2016)
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PLoS One
, 11
(4)
, Article e0153757. 10.1371/journal.pone.0153757.
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B
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Bacchelli, C;
Williams, HJ;
(2016)
Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
Expert Review of Molecular Diagnostics
, 16
(10)
pp. 1073-1082.
10.1080/14737159.2016.1222906.
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Banushi, B;
Forneris, F;
Straatman-Iwanowska, A;
Strange, A;
Lyne, A-M;
Rogerson, C;
Burden, JJ;
... Gissen, P; + view all
(2016)
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.
Nature Communications
, 7
, Article 12111. 10.1038/ncomms12111.
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Barrett, AN;
Advani, HV;
Chitty, LS;
Su, LL;
Biswas, A;
Tan, WC;
Hill, M;
(2016)
Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.
Singapore Medical Journal
, 58
(6)
pp. 298-310.
10.11622/smedj.2016114.
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Bashamboo, A;
Donohoue, PA;
Vilain, E;
Rojo, S;
Calvel, P;
Seneviratne, SN;
Buonocore, F;
... Achermann, JC; + view all
(2016)
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Human Molecular Genetics
, 25
(16)
pp. 3446-3453.
10.1093/hmg/ddw186.
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Berkovic, SF;
Staropoli, JF;
Carpenter, S;
Oliver, KL;
Kmoch, S;
Anderson, GW;
Damiano, JA;
... ANCL Gene Discovery Consortium, .; + view all
(2016)
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Neurology
, 87
(6)
pp. 579-584.
10.1212/WNL.0000000000002943.
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Bettencourt, C;
Forabosco, P;
Wiethoff, S;
Heidari, M;
Johnstone, DM;
Botía, JA;
Collingwood, JF;
... Houlden, H; + view all
(2016)
Gene co-expression networks shed light into diseases of brain iron accumulation.
Neurobiology of Disease
, 87
pp. 59-68.
10.1016/j.nbd.2015.12.004.
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Bliss, E;
Heywood, WE;
Benatti, M;
Sebire, NJ;
Mills, K;
(2016)
An optimised method for the proteomic profiling of full thickness human skin.
Biological Procedures Online
, 18
, Article 15. 10.1186/s12575-016-0045-y.
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Boldt, K;
Van Reeuwijk, J;
Lu, Q;
Koutroumpas, K;
Nguyen, TM;
Texier, Y;
Van Beersum, SE;
... UK10K Rare Diseases Group; + view all
(2016)
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Nature Communications
, 7
, Article 11491. 10.1038/ncomms11491.
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Brown, JR;
Roy, S;
Ruis, C;
Yara Romero, E;
Shah, D;
Williams, R;
Breuer, J;
(2016)
Norovirus whole genome sequencing by SureSelect target enrichment: a robust and sensitive method.
Journal of Clinical Microbiology
, 54
(10)
pp. 2530-2537.
10.1128/JCM.01052-16.
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Brown, RE;
(2016)
Identification of genetic interactions in a S. pombe yeast model for juvenile CLN3 disease.
Doctoral thesis , UCL (University College London).
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Buonocore, F;
Achermann, JC;
(2016)
Human sex development: targeted technologies to improve diagnosis.
Genome Biology
, 17
, Article 257. 10.1186/s13059-016-1128-4.
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Butcher, RMR;
Sokana, O;
Jack, K;
Macleod, CK;
Marks, M;
Kalae, E;
Sui, L;
... Roberts, CH; + view all
(2016)
Correction: Low Prevalence of Conjunctival Infection with Chlamydia trachomatis in a Treatment-Naïve Trachoma-Endemic Region of the Solomon Islands.
[Corrigendum].
PLoS Negl Trop Dis
, 10
(10)
, Article e0005051. 10.1371/journal.pntd.0005051.
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Butcher, RMR;
Sokana, O;
Jack, K;
Macleod, CK;
Marks, ME;
Kalae, E;
Sui, L;
... Roberts, CH; + view all
(2016)
Low Prevalence of Conjunctival Infection with Chlamydia trachomatis in a Treatment-Naive Trachoma-Endemic Region of the Solomon Islands.
PLoS Neglected Tropical Diseases
, 10
(9)
, Article e0004863. 10.1371/journal.pntd.0004863.
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C
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Captur, G;
Ho, CY;
Schlossarek, S;
Kerwin, J;
Mirabel, M;
Wilson, R;
Rosmini, S;
... Moon, JC; + view all
(2016)
The embryological basis of subclinical hypertrophic cardiomyopathy.
Scientific Reports
, 6
, Article 27714. 10.1038/srep27714.
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Castillo, SD;
Tzouanacou, E;
Zaw-Thin, M;
Berenjeno, IM;
Parker, VE;
Chivite, I;
Milà-Guasch, M;
... Vanhaesebroeck, B; + view all
(2016)
Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
Science Translational Medicine
, 8
(332)
, Article 332ra43. 10.1126/scitranslmed.aad9982.
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Catapano, F;
Zaharieva, I;
Scoto, M;
Marrosu, E;
Morgan, J;
Muntoni, F;
Zhou, H;
(2016)
Altered Levels of MicroRNA-9,-206, and-132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy.
Molecular Therapy-Nucleic Acids
, 5
, Article e331. 10.1038/mtna.2016.47.
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Chen, W;
Kinsler, VA;
Macmillan, D;
Di, W-L;
(2016)
Tissue Kallikrein Inhibitors Based on the Sunflower Trypsin Inhibitor Scaffold - A Potential Therapeutic Intervention for Skin Diseases.
PLOS ONE
, 11
(11)
10.1371/journal.pone.0166268.
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Chitty, LS;
David, AL;
Gottschalk, I;
Oepkes, D;
Westgren, M;
Götherström, C;
Consortium, O;
(2016)
EP21.04: BOOSTB4: a clinical study to determine safety and efficacy of pre- and/or postnatal stem cell transplantation for treatment of osteogenesis imperfecta.
Presented at: 26th World Congress on Ultrasound in Obstetrics and Gynecology, Rome, Italy.
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Chitty, LS;
Wright, D;
Hill, M;
Verhoef, TI;
Daley, R;
Lewis, C;
Mason, S;
... Morris, S; + view all
(2016)
Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.
BMJ
, 354
, Article i3426. 10.1136/bmj.i3426.
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Christie, D;
Thompson, R;
Sawtell, M;
Allen, E;
Cairns, J;
Smith, F;
Jamieson, E;
... Viner, RM; + view all
(2016)
Effectiveness of a structured educational intervention using psychological delivery methods in children and adolescents with poorly controlled type 1 diabetes: a cluster randomised controlled trial of the CASCADE intervention.
BMJ Open Diabetes Research & Care
, 4
(1)
, Article e000165. 10.1136/bmjdrc-2015-000165.
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Cortina-Borja, M;
Williams, D;
Peckham, CS;
Bailey, H;
Thorne, C;
(2016)
Hepatitis C virus seroprevalence in pregnant women delivering live-born infants in North Thames, England in 2012.
Epidemiology and Infection
, 144
(3)
pp. 627-634.
10.1017/S0950268815001557.
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D
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Deas, E;
Cremades, N;
Angelova, PR;
Ludtmann, MHR;
Yao, Z;
Chen, S;
Horrocks, MH;
... Abramov, AY; + view all
(2016)
Alpha-Synuclein Oligomers Interact with Metal Ions to Induce Oxidative Stress and Neuronal Death in Parkinson's Disease.
Antioxidants & Redox Signaling
, 24
(7)
pp. 376-391.
10.1089/ars.2015.6343.
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Domenice, S;
Machado, AZ;
Ferreira, FM;
Ferraz-de-Souza, B;
Lerario, AM;
Lin, L;
Nishi, MY;
... Mendonca, BB; + view all
(2016)
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Birth Defects Research Part C-Embryo Today-Reviews
, 108
(4)
pp. 309-320.
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Dumas, M-E;
Domange, C;
Calderari, S;
Martínez, AR;
Ayala, R;
Wilder, SP;
Suárez-Zamorano, N;
... Gauguier, D; + view all
(2016)
Topological analysis of metabolic networks integrating co-segregating transcriptomes and metabolomes in type 2 diabetic rat congenic series.
Genome Medicine
, 8
, Article 101. 10.1186/s13073-016-0352-6.
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E
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Eastlake, K;
Heywood, W;
Tracey-White, D;
Moosajee, M;
Mills, K;
Banerjee, P;
Charteris, D;
... Limb, A; + view all
(2016)
Comparative proteomic analysis between the degenerated human and zebrafish retina.
Investigative Ophthalmology & Visual Science
, 57
(12)
, Article 2249.
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Eckert, SE;
Chan, JZ-M;
Houniet, D;
PATHSEEK consortium, .;
Breuer, J;
Speight, G;
(2016)
Enrichment by hybridisation of long DNA fragments for Nanopore sequencing.
Microbial Genomics
, 2
(9)
, Article e000087. 10.1099/mgen.0.000087.
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F
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Faller, KM;
Bras, J;
Sharpe, SJ;
Anderson, GW;
Darwent, L;
Kun-Rodrigues, C;
Alroy, J;
... Guerreiro, RJ; + view all
(2016)
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
Journal of Neuroscience Research
, 94
(4)
pp. 339-347.
10.1002/jnr.23710.
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Ferrari, R;
Forabosco, P;
Vandrovcova, J;
Botía, JA;
Guelfi, S;
Warren, JD;
UK Brain Expression Consortium (UKBEC);
... Hardy, J; + view all
(2016)
Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.
Molecular Neurodegeneration
, 11
, Article 21. 10.1186/s13024-016-0085-4.
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Fietz, M;
AlSayed, M;
Burke, D;
Cohen-Pfeffer, J;
Cooper, JD;
Dvořáková, L;
Giugliani, R;
... Miller, N; + view all
(2016)
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Molecular Genetics and Metabolism
, 119
(1-2)
pp. 160-167.
10.1016/j.ymgme.2016.07.011.
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Franke, B;
Stein, JL;
Ripke, S;
Anttila, V;
Hibar, DP;
van Hulzen, KJ;
Arias-Vasquez, A;
... Sullivan, PF; + view all
(2016)
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Nature Neuroscience
, 19
(3)
pp. 420-431.
10.1038/nn.4228.
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Franko, E;
Wehner, T;
Joly, O;
Lowe, J;
Porter, MC;
Kenny, J;
Thompson, A;
... Mead, S; + view all
(2016)
Quantitative EEG parameters correlate with the progression of human prion diseases.
Journal of Neurology, Neurosurgery & Psychiatry
, 87
(10)
pp. 1061-1067.
10.1136/jnnp-2016-313501.
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G
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Gagliano, SA;
Pouget, JG;
Hardy, J;
Knight, J;
Barnes, MR;
Ryten, M;
Weale, ME;
(2016)
Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases.
Annals of Clinical and Translational Neurology
, 3
(12)
pp. 924-933.
10.1002/acn3.369.
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Gaston-Massuet, C;
McCabe, MJ;
Scagliotti, V;
Young, RM;
Carreno, G;
Gregory, LC;
Jayakody, SA;
... Martinez-Barbera, JP; + view all
(2016)
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proceedings of the National Academy of Sciences of the U S A
10.1073/pnas.1503346113.
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Greene, ND;
Leung, KY;
Gay, V;
Burren, K;
Mills, K;
Chitty, LS;
Copp, AJ;
(2016)
Inositol for the prevention of neural tube defects: a pilot randomised controlled trial.
British Journal of Nutrition
, 115
(6)
pp. 974-983.
10.1017/S0007114515005322.
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Gregory, LC;
Alatzoglou, KS;
McCabe, MJ;
Hindmarsh, PC;
Saldanha, JW;
Romano, N;
Le Tissier, P;
(2016)
Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
Journal of Clinical Endocrinology and Metabolism
, 101
(10)
pp. 3608-3615.
10.1210/jc.2016-2254.
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Griffin, BH;
Chitty, LS;
Bitner-Glindzicz, M;
(2016)
The 100 000 Genomes Project: What it means for paediatrics.
Archives of Disease in Childhood - Education and Practice
, 102
pp. 105-107.
10.1136/archdischild-2016-311029.
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Güemes, M;
Murray, PG;
Brain, CE;
Spoudeas, HA;
Peters, CJ;
Hindmarsh, PC;
Dattani, MT;
(2016)
Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.
European Journal of Pediatrics
, 175
(7)
pp. 967-976.
10.1007/s00431-016-2727-5.
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Guerreiro, RJ;
Brown, R;
Dian, D;
de Goede, C;
Bras, J;
Mole, SE;
(2016)
Mutation of TBCK causes a rare recessive developmental disorder.
Neurology: Genetics
, 2
(3)
, Article e76. 10.1212/NXG.0000000000000076.
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Guran, T;
Buonocore, F;
Saka, N;
Ozbek, MN;
Aycan, Z;
Bereket, A;
Bas, F;
... Achermann, JC; + view all
(2016)
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Journal of Clinical Endocrinology and Metabolism
, 101
(1)
pp. 284-292.
10.1210/jc.2015-3250.
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H
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Hammond, SM;
Hazell, G;
Shabanpoor, F;
Saleh, AF;
Bowerman, M;
Sleigh, JN;
Meijboom, KE;
... Wood, MJ; + view all
(2016)
Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy.
Proceedings of the National Academy of Sciences of the United States of America
, 113
(39)
pp. 10962-10967.
10.1073/pnas.1605731113.
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Heidari, M;
Gerami, SH;
Bassett, B;
Graham, RM;
Chua, ACG;
Aryal, R;
House, MJ;
... Milward, EA; + view all
(2016)
Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.
Rare Diseases
, 4
(1)
, Article e1198458. 10.1080/21675511.2016.1198458.
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Heidari, M;
Johnstone, DM;
Bassett, B;
Graham, RM;
Chua, AC;
House, MJ;
Collingwood, JF;
... Milward, EA; + view all
(2016)
Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.
Molecular Psychiatry
, 21
pp. 1599-1607.
10.1038/mp.2015.192.
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Heslegrave, A;
Heywood, W;
Paterson, R;
Magdalinou, N;
Svensson, J;
Johansson, P;
Ohrfelt, A;
... Zetterberg, H; + view all
(2016)
Increased cerebrospinal fluid soluble TREM2 concentration in Alzheimer's disease.
Molecular Neurodegeneration
, 11
, Article 3. 10.1186/s13024-016-0071-x.
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Heywood, WE;
Baud, A;
Bliss, E;
Sirka, E;
Schott, JM;
Zetterberg, H;
Galimberti, D;
... Mills, K; + view all
(2016)
A High Throughput, Multiplexed and Targeted Proteomic CSF Assay to Quantify Neurodegenerative Biomarkers and Apolipoprotein E Isoforms Status.
Journal of Visualized Experiments
, 116
, Article e54541. 10.3791/54541.
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Heywood, WE;
Bliss, E;
Mills, P;
Yuzugulen, J;
Carreno, G;
Clayton, PT;
Muntoni, F;
... Grunewald, S; + view all
(2016)
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.
Molecular Genetics and Metabolism Reports
, 7
pp. 55-62.
10.1016/j.ymgmr.2016.03.002.
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Heywood, WE;
Galimberti, D;
Bliss, E;
Sirka, E;
Paterson, RW;
Magdalinou, NK;
Carecchio, M;
... Mills, K; + view all
(2016)
Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay (vol 10, 64, 2015).
[Corrigendum].
Molecular Neurodegeneration
, 11
, Article 20. 10.1186/s13024-016-0086-3.
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Heywood, WE;
Pryce, J;
Virasami, A;
Preece, RL;
Dezateux, C;
Mills, K;
Sebire, NJ;
(2016)
A rapid high throughput proteomic method based on profiling of proteolytic free peptides to assess post-delivery degradation of placental tissue.
Placenta
, 44
pp. 109-111.
10.1016/j.placenta.2016.04.014.
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Hill, M;
Lewis, C;
Chitty, LS;
(2016)
Stakeholder attitudes and needs regarding cell-free fetal DNA testing.
Current Opinion in Obstetrics and Gynecology
, 28
(2)
pp. 125-131.
10.1097/GCO.0000000000000251.
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Hollak, CE;
Biegstraaten, M;
Baumgartner, MR;
Belmatoug, N;
Bembi, B;
Bosch, A;
Brouwers, M;
... Hagendijk, R; + view all
(2016)
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Orphanet Journal of Rare Diseases
, 11
, Article 7. 10.1186/s13023-016-0383-5.
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Houldcroft, CJ;
Breuer, J;
Bryant, J;
Depledge, D;
Margetts, B;
Simmonds, J;
Nicolaou, S;
... PATHSEEK, .; + view all
(2016)
Detection of low frequency multi-drug resistance and novel putative maribavir resistance in immunocompromised paediatric patients with cytomegalovirus.
Frontiers in Microbiology
, 7
, Article 1317. 10.3389/fmicb.2016.01317.
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Huang-Doran, I;
Tomlinson, P;
Payne, F;
Gast, A;
Sleigh, A;
Bottomley, W;
Harris, J;
... Semple, RK; + view all
(2016)
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
JCI Insight
, 1
(17)
, Article e88766. 10.1172/jci.insight.88766.
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I
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Ishida, M;
(2016)
New developments in Silver-Russell syndrome and implications for clinical practice.
Epigenomics
, 8
(4)
pp. 563-580.
10.2217/epi-2015-0010.
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J
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Jacobsen, MC;
Dusart, PJ;
Kotowicz, K;
Bajaj-Elliott, M;
Hart, SL;
Klein, NJ;
Dixon, GL;
(2016)
A critical role for ATF2 transcription factor in the regulation of E-selectin expression in response to non-endotoxin components of Neisseria meningitidis.
Cellular Microbiology
, 18
(1)
pp. 66-79.
10.1111/cmi.12483.
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Jenkins, D;
(2016)
Hedgehog Signaling in Development and Disease.
In: Bradshaw, R and Stahl, P, (eds.)
Encyclopedia of Cell Biology.
(pp. 76-85).
Elsevier: London, UK.
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Johnson, B;
Lowe, GC;
Futterer, J;
Lordkipanidze, M;
MacDonald, D;
Simpson, MA;
Sanchez-Guiu, I;
... Morgan, NV; + view all
(2016)
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Haematologica
, 101
(10)
pp. 1170-1179.
10.3324/haematol.2016.146316.
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K
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Kaisaki, PJ;
Otto, GW;
Argoud, K;
Collins, SC;
Wallis, RH;
Wilder, SP;
Yau, AC;
... Gauguier, D; + view all
(2016)
Transcriptome Profiling in Rat Inbred Strains and Experimental Cross Reveals Discrepant Genetic Architecture of Genome-Wide Gene Expression.
G3: Genes, Genomes, Genetics
10.1534/g3.116.033274.
(In press).
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Kanabus, M;
Fassone, E;
Hughes, SD;
Bilooei, SF;
Rutherford, T;
Donnell, MO;
Heales, SJ;
(2016)
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.
Journal of Inherited Metabolic Disease
, 39
(3)
pp. 415-426.
10.1007/s10545-016-9930-4.
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Kanabus, MM;
(2016)
Development of a cell based system to investigate which Leigh syndrome patients could benefit from treatment with decanoic acid or ketone bodies.
Doctoral thesis , UCL (University College London).
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Karda, R;
Perocheau, DP;
Suff, N;
Ng, J;
Hughes, M;
Rahim, AA;
Buckley, SMK;
... Waddington, SN; + view all
(2016)
Generation of light-producing somatic-transgenic mice using adeno-associated virus vectors.
In:
Human Gene Therapy. November 2016, 27(11).
(pp. A107-A108).
Mary Ann Liebert, Inc
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Kinghorn, KJ;
Groenke, S;
Castillo-Quan, JI;
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