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Number of items: 1110.
A
Aartsma-Rus, A;
Morgan, J;
Lonkar, P;
Neubert, H;
Owens, J;
Binks, M;
Montolio, M;
... Arechavala-Gomeza, V; + view all
(2019)
Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.
Journal of Neuromuscular Diseases
10.3233/JND-180357.
(In press).
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Abdel-Mannan, O;
D'Argenzio, L;
Pitt, M;
D'Arco, F;
Bhate, S;
Hacohen, Y;
Kaliakatsos, M;
(2019)
Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia.
Child Neurology Open
, 6
(1-5)
10.1177/2329048X19856778.
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Abdel-Mannan, O;
Taylor, H;
Donner, EJ;
Sutcliffe, AG;
(2019)
A systematic review of sudden unexpected death in epilepsy (SUDEP) in childhood.
Epilepsy & Behavior
, 90
pp. 99-106.
10.1016/j.yebeh.2018.11.006.
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Abolhassani, H;
El-Sherbiny, YM;
Arumugakani, G;
Carter, C;
Richards, S;
Lawless, D;
Wood, P;
... Savic, S; + view all
(2019)
Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.
Journal of Clinical Immunology
10.1007/s10875-019-00735-z.
(In press).
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Abril, JF;
Castellano Hereza, S;
(2019)
Genome Annotation.
In: Ranganathan, S and Gribskov, M and Schönbach, C, (eds.)
Encyclopedia of Bioinformatics and Computational Biology.
(pp. 195-209).
Elsevier: Amsterdam, Netherlands.
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Acosta-Herrera, M;
Kerick, M;
Gonzalez-Serna, D;
Wijmenga, C;
Franke, A;
Gregersen, PK;
Padyukov, L;
... Arnett, FC; + view all
(2019)
Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.
Annals of the Rheumatic Diseases
, 78
(3)
pp. 311-319.
10.1136/annrheumdis-2018-214127.
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Admiraal, R;
Jol-van der Zijde, CM;
Furtado Silva, JM;
Knibbe, CAJ;
Lankester, AC;
Boelens, JJ;
Hale, G;
... Bredius, RGM; + view all
(2019)
Population Pharmacokinetics of Alemtuzumab (Campath) in Pediatric Hematopoietic Cell Transplantation: Towards Individualized Dosing to Improve Outcome.
Clinical Pharmacokinetics
, 58
pp. 1609-1620.
10.1007/s40262-019-00782-0.
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Agbla, SC;
De Stavola, B;
DiazOrdaz, K;
(2019)
Estimating cluster-level local average treatment effects in cluster randomised trials with non-adherence.
Statistical Methods in Medical Research
10.1177/0962280219849613.
(In press).
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Ahmed, N;
Flavell, S;
Ferns, B;
Frampton, D;
Edwards, SG;
Miller, RF;
Grant, P;
... Gupta, RK; + view all
(2019)
Development of the R263K Mutation to Dolutegravir in an HIV-1 Subtype D Virus Harboring 3 Class-Drug Resistance.
Open Forum Infectious Diseases
, 6
(1)
, Article ofy329. 10.1093/ofid/ofy329.
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Ahmed, S;
Moore, DA;
Nimmo, C;
Nunn, AJ;
Yates, TA;
North London TB Journal Club;
(2019)
Linezolid for drug-susceptible tuberculosis.
[Letter].
The Lancet Infectious Diseases
, 19
(4)
p. 357.
10.1016/S1473-3099(19)30110-0.
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Aktar, R;
Peiris, M;
Fikree, A;
Eaton, S;
Kritas, S;
Kentish, SJ;
Araujo, EJA;
... Blackshaw, LA; + view all
(2019)
A novel role for the extracellular matrix glycoprotein-Tenascin-X in gastric function.
Journal of Physiology
, 597
(6)
pp. 1503-1515.
10.1113/JP277195.
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Aldape, K;
Brindle, KM;
Chesler, L;
Chopra, R;
Gajjar, A;
Gilbert, MR;
Gottardo, N;
... Gilbertson, RJ; + view all
(2019)
Challenges to curing primary brain tumours.
Nature Reviews Clinical Oncology
10.1038/s41571-019-0177-5.
(In press).
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Aldape, K;
Brindle, KM;
Chesler, L;
Chopra, R;
Gajjar, A;
Gilbert, MR;
Gottardo, N;
... Gilbertson, RJ; + view all
(2019)
Reply to 'Assembling the brain trust: the multidisciplinary imperative in neuro-oncology'.
[Letter].
Nature Reviews Clinical Oncology
, 16
pp. 522-523.
10.1038/s41571-019-0236-y.
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Aldeiri, B;
Davidson, J;
Eaton, S;
Coletta, R;
Almeida, AC;
Long, AM;
Knight, M;
... De Coppi, P; + view all
(2019)
Variations in the detection of anorectal anomalies at birth amongst European cities.
European Journal of Pediatric Surgery
10.1055/s-0039-1687868.
(In press).
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Alderson, LM;
Joksaite, SX;
Kemp, J;
Main, E;
Watson, T;
Platt, FM;
Cortina-Borja, M;
(2019)
Age-related gait standards for healthy children and young people: the GOS-ICH paediatric gait centiles.
Archives of Disease in Childhood
, 104
(8)
pp. 755-760.
10.1136/archdischild-2018-316311.
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Aldunate, EZ;
Di Foggia, V;
Di Marco, F;
Hervas, LA;
Ribeiro, JC;
Holder, DL;
Patel, A;
... Sowden, JC; + view all
(2019)
Conditional Dicer1 depletion using Chrnb4-Cre leads to cone cell death and impaired photopic vision.
Scientific Reports
, 9
, Article 2314. 10.1038/s41598-018-38294-9.
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Ali, SR;
Bryce, J;
Cools, M;
Korbonits, M;
Beun, JG;
Taruscio, D;
Danne, T;
... Ahmed, SF; + view all
(2019)
The current landscape of European registries for rare endocrine conditions.
European Journal of Endocrinology
, 180
(1)
pp. 89-98.
10.1530/EJE-18-0861.
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Alkhidir, AAI;
Holland, MJ;
Elhag, WI;
Williams, CA;
Breuer, J;
Elemam, AE;
El Hussain, KMK;
... Pickering, H; + view all
(2019)
Whole-genome sequencing of ocular Chlamydia trachomatis isolates from Gadarif State, Sudan.
Parasites and Vectors
, 12
, Article 518. 10.1186/s13071-019-3770-7.
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Allin, BSR;
Hall, NJ;
Ross, AR;
Marven, SS;
Kurinczuk, JJ;
Knight, M;
Caven, C;
... Wright, N; + view all
(2019)
Development of a gastroschisis core outcome set.
Archives of Disease in Childhood- Fetal and Neonatal Edition
, 104
(1)
F76-F82.
10.1136/archdischild-2017-314560.
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Althawadi, R;
Shkurka, E;
Shannon, H;
(2019)
Effects of physiotherapy on respiratory outcomes following cardiac surgery in the paediatric population: a prospective, observational study.
Presented at: World Confederation for Physical Therapy (WCPT 2019), Geneva, Switzerland.
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Amin, S;
Lux, A;
O'Callaghan, F;
(2019)
The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth.
British Journal of Clinical Pharmacology
, 85
(1)
pp. 37-46.
10.1111/bcp.13780.
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Amin, S;
Mallick, AA;
Lux, A;
O'Callaghan, F;
(2019)
Quality of life in patients with Tuberous Sclerosis Complex (TSC).
European Journal of Paediatric Neurology
, 23
(6)
pp. 801-807.
10.1016/j.ejpn.2019.09.006.
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Anderson, R;
Rust, S;
Ashworth, J;
Clayton-Smith, J;
Taylor, RL;
Clayton, PT;
Morris, AAM;
(2019)
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.
JIMD Reports
, 44
pp. 79-84.
10.1007/8904_2018_127.
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Andersson, G;
Carlbring, P;
Rozental, A;
(2019)
Response and Remission Rates in Internet-Based Cognitive Behavior Therapy: An Individual Patient Data Meta-Analysis.
Frontiers in Psychiatry
, 10
, Article 749. 10.3389/fpsyt.2019.00749.
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Angius, A;
Uva, P;
Oppo, M;
Buers, I;
Persico, I;
Onano, S;
Cuccuru, G;
... Crisponi, L; + view all
(2019)
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.
Clinical Genetics
, 95
(5)
pp. 607-614.
10.1111/cge.13532.
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Angullia, F;
Fright, WR;
Richards, R;
Schievano, S;
Linney, AD;
Dunaway, DJ;
(2019)
A novel RBF-based predictive tool for facial distraction surgery in growing children with syndromic craniosynostosis.
International Journal of Computer Assisted Radiology and Surgery
10.1007/s11548-019-02063-4.
(In press).
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Ankcorn, M;
Moreira, F;
Ijaz, S;
Symes, A;
Buckland, MS;
Workman, S;
Warburton, F;
... Lowe, DM; + view all
(2019)
Absence of Persistent Hepatitis E Virus Infection in Antibody-Deficient Patients Is Associated With Transfer of Antigen-Neutralizing Antibodies From Immunoglobulin Products.
The Journal of Infectious Diseases
, 219
(2)
pp. 245-253.
10.1093/infdis/jiy504.
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Annear, NMP;
Appleton, RE;
Bassi, Z;
Bhatt, R;
Bolton, PF;
Crawford, P;
Crowe, A;
... Kingswood, JC; + view all
(2019)
Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care.
Frontiers in Neurology
, 10
, Article 1116. 10.3389/fneur.2019.01116.
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Antoniou, A;
Lenart, I;
Kriston-Vizi, J;
Takao, I;
Turmaine, M;
McHugh, K;
Ali, S;
... Powis, S; + view all
(2019)
Salmonella exploits HLA-B27 and host Unfolded Protein Responses to promote intracellular replication.
Annals of the Rheumatic Diseases
, 78
(1)
pp. 74-82.
10.1136/ annrheumdis-2018-213532.
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Apps, J;
Hutchinson, C;
Shelmerdine, S;
Virasami, A;
Winter, E;
Jacques, T;
Martinez-Barbera, J-P;
... Czech, T; + view all
(2019)
Learning from cases: Analysis of two cases of craniopharyngioma from the 19th to the 21st centuries. [version 1; peer review: 2 approved].
F1000Research
, 8
, Article 1544. 10.12688/f1000research.19626.1.
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Ardicli, D;
Sarkozy, A;
Zaharieva, I;
Deshpande, C;
Bodi, I;
Siddiqui, A;
U-King-Im, JM;
... Muntoni, F; + view all
(2019)
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.
Neuromuscular Disorders
, 29
(6)
pp. 448-455.
10.1016/j.nmd.2019.03.011.
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Argyropoulos, GPD;
Watkins, KE;
Belton- Pagnamenta, E;
Liégeois, FJ;
Saleem, KS;
Mishkin, M;
Vargha-Khadem, F;
(2019)
Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2.
The Cerebellum
10.1007/s12311-018-0989-3.
(In press).
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Armenteros-Monterroso, E;
Zhao, L;
Gasparoli, L;
Brooks, T;
Pearce, K;
Mansour, MR;
Martens, JHA;
... Williams, O; + view all
(2019)
The AAA+ATPase RUVBL2 is essential for the oncogenic function of c-MYB in acute myeloid leukemia.
Leukemia
, 33
pp. 2817-2829.
10.1038/s41375-019-0495-8.
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Arnaud, A;
Suply, E;
Eaton, SJ;
Blackburn, S;
Giuliani, S;
Curry, J;
Cross, K;
(2019)
Laparoscopic Ladd’s procedure for malrotation in infants and children is still a controversial approach.
Journal of Pediatric Surgery
, 54
(9)
pp. 1843-1847.
10.1016/j.jpedsurg.2018.09.023.
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Arthur, L;
Keen, K;
Verriotis, M;
Peters, J;
Kelly, A;
Howard, RF;
Dib-Hajj, SD;
... Walker, SM; + view all
(2019)
Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.
The Journal of Pediatrics
, 206
217-224.e9.
10.1016/j.jpeds.2018.10.024.
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Aughwane, R;
Schaaf, C;
Hutchinson, JC;
Virasami, A;
Zuluaga, MA;
Sebire, N;
Arthurs, OJ;
... David, AL; + view all
(2019)
Micro-CT and histological investigation of the spatial pattern of feto-placental vascular density.
Placenta
10.1016/j.placenta.2019.09.014.
(In press).
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Auvin, S;
Avbersek, A;
Bast, T;
Chiron, C;
Guerrini, R;
Kaminski, RM;
Lagae, L;
... Cross, JH; + view all
(2019)
Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions.
Drugs
, 79
(18)
pp. 1917-1935.
10.1007/s40265-019-01223-9.
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Avgerinou, C;
Bhanu, C;
Walters, K;
Croker, H;
Liljas, A;
Rea, J;
Bauernfreund, Y;
... Kharicha, K; + view all
(2019)
Exploring the Views and Dietary Practices of Older People at Risk of Malnutrition and Their Carers: A Qualitative Study.
Nutrients
, 11
(6)
, Article 1281. 10.3390/nu11061281.
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Avgerinou, C;
Bhanu, C;
Walters, K;
Croker, H;
Tuijt, R;
Liljas, A;
Rea, J;
... Kharicha, K; + view all
(2019)
P-794 How can we better support older people at risk of malnutrition living in the community? A qualitative study.
Presented at: 15th International Congress of the European Geriatric Medicine Society, Krakow, Poland.
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Aydin, SE;
Freeman, AF;
Al-Herz, W;
Al-Mousa, HA;
Arnaout, RK;
Aydin, RC;
Barlogis, V;
... Inborn Errors Working Party of the European Group for Blood and; + view all
(2019)
Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.
Journal of Allergy and Clinical Immunology: In Practice
, 7
(3)
pp. 848-855.
10.1016/j.jaip.2018.10.035.
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Azevedo, LB;
van Sluijs, EMF;
Moore, HJ;
Hesketh, K;
(2019)
Determinants of change in accelerometer-assessed sedentary behaviour in children 0 to 6 years of age: A systematic review.
Obesity Reviews
10.1111/obr.12882.
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Azzopardi, PS;
Hearps, SJC;
Francis, KL;
Kennedy, EC;
Mokdad, AH;
Kassebaum, NJ;
Lim, S;
... Patton, GC; + view all
(2019)
Progress in adolescent health and wellbeing: tracking 12 headline indicators for 195 countries and territories, 1990-2016.
The Lancet
, 393
(10176)
pp. 1101-1118.
10.1016/S0140-6736(18)32427-9.
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B
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Bachmann, C;
Noreen, F;
Voermans, NC;
Schar, PL;
Vissing, J;
Fock, JM;
Bulk, S;
... Treves, S; + view all
(2019)
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Human Mutation
, 40
(7)
pp. 962-974.
10.1002/humu.23745.
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Bacila, I;
Adaway, J;
Hawley, J;
Mahdi, S;
Krone, R;
Patel, L;
Alvi, S;
... Krone, N; + view all
(2019)
Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency.
The Journal of Clinical Endocrinology & Metabolism
, 104
(12)
pp. 6417-6429.
10.1210/jc.2019-00031.
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Badshah, II;
Brown, S;
Weibel, L;
Rose, A;
Way, B;
Sebire, N;
Inman, G;
... O'Shaughnessy, R; + view all
(2019)
Differential expression of secreted factors SOSTDC1 and ADAMTS8 cause profibrotic changes in linear morphoea fibroblasts.
British Journal of Dermatology
, 180
(5)
pp. 1135-1149.
10.1111/bjd.17352.
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Baird, William;
(2019)
Genetic therapy for congenital melanocytic naevi.
Doctoral thesis (Ph.D), UCL (University College London).
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Balasubramaniam, S;
Christodoulou, J;
Rahman, S;
(2019)
Disorders of Riboflavin Metabolism.
Journal of Inherited Metabolic Disease
, 42
(4)
pp. 608-619.
10.1002/jimd.12058.
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Bandres-Ciga, S;
Ahmed, S;
Sabir, MS;
Blauwendraat, C;
Adarmes-Gomez, AD;
Bernal-Bernal, I;
Bonilla-Toribio, M;
... Singleton, A; + view all
(2019)
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.
Movement Disorders
10.1002/mds.27864.
(In press).
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Bandres-Ciga, S;
Saez-Atienzar, S;
Bonet-Ponce, L;
Billingsley, K;
Vitale, D;
Blauwendraat, C;
Gibbs, JR;
... Singleton, AB; + view all
(2019)
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Movement Disorders
, 34
(4)
pp. 460-468.
10.1002/mds.27614.
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Bandyopadhyay, A;
Tingay, K;
Akbari, A;
Griffiths, L;
Bedford, H;
Cortina-Borja, M;
Walton, S;
... Brophy, S; + view all
(2019)
Behavioural difficulties in early childhood and risk of adolescent injury.
Archives of Disease in Childhood
, 105
pp. 282-287.
10.1136/archdischild-2019-317271.
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Baranello, G;
Vai, S;
Broggi, F;
Masson, R;
Arnoldi, MT;
Zanin, R;
Mastella, C;
(2019)
Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3.
Neuromuscular Disorders
, 29
(7)
pp. 525-532.
10.1016/j.nmd.2019.06.001.
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Barnes, J;
Hunter, J;
Harris, S;
Shankar-Hari, M;
Diouf, E;
Jammer, I;
Kalkman, C;
... Mythen, MG; + view all
(2019)
Systematic review and consensus definitions for the Standardised Endpoints in Perioperative Medicine (StEP) initiative: infection and sepsis.
British Journal of Anaesthesia
, 122
(4)
pp. 500-508.
10.1016/j.bja.2019.01.009.
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Barona, M;
Brown, M;
Clark, C;
Frangou, S;
White, T;
Micali, N;
(2019)
White matter alterations in anorexia nervosa: Evidence from a voxel-based meta-analysis.
Neuroscience & Biobehavioral Reviews
, 100
pp. 285-295.
10.1016/j.neubiorev.2019.03.002.
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Barrell, WB;
Griffin, JN;
Harvey, J-L;
Danovi, D;
Beales, P;
Grigoriadis, AE;
Liu, KJ;
(2019)
Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs.
Frontiers In Molecular Neuroscience
, 12
, Article 139. 10.3389/fnmol.2019.00139.
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Barton, E;
Gao, Y;
Ball, D;
Fidler, K;
Klein, N;
Curtis, N;
Clifford, V;
... Tebruegge, M; + view all
(2019)
Calcineurin Inhibitors and Variation in the Performance of Interferon-gamma Release Assays Used to Detect Tuberculosis Infection.
Annals of the American Thoracic Society
, 16
(6)
pp. 771-775.
10.1513/AnnalsATS.201811-784RL.
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Barton, J;
Pacey, K;
Jain, N;
Kasia, T;
Edwards, D;
Thevanesan, C;
Straathof, K;
... Anderson, J; + view all
(2019)
Establishment and phenotyping of neurosphere cultures from primary neuroblastoma samples.
F1000Research
, 8
, Article 823. 10.12688/f1000research.18209.1.
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Baruteau, J;
Diez-Fernandez, C;
Lerner, S;
Ranucci, G;
Gissen, P;
Dionisi-Vici, C;
Nagamani, S;
... Häberle, J; + view all
(2019)
Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.
Journal of Inherited Metabolic Disease
, 42
(6)
pp. 1147-1161.
10.1002/jimd.12047.
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Baruteau, J;
Khalil, Y;
Grunewald, S;
Zancolli, M;
Chakrapani, A;
Cleary, M;
Davison, J;
... Mills, P; + view all
(2019)
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
Metabolites
, 9
(11)
, Article 275. 10.3390/metabo9110275.
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Baruteau, J;
Waddington, SN;
(2019)
Fetal gene therapy for neurodegenerative lysosomal storage diseases.
Journal of Inherited Metabolic Disease
, 42
(3)
pp. 391-393.
10.1002/jimd.12018.
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Bate, J;
Baker, S;
Breuer, J;
Chisholm, JC;
Gray, J;
Hambleton, S;
Houlton, A;
... Heath, PT; + view all
(2019)
PEPtalk2: Results of a pilot randomised controlled trial to compare VZIG and aciclovir as postexposure prophylaxis (PEP) against chickenpox in children with cancer.
Archives of Disease in Childhood
, 104
(1)
pp. 25-29.
10.1136/archdischild-2017-314212.
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Bathelt, J;
Dale, NJ;
de Haan, M;
Clark, CA;
(2019)
Brain structure in children with congenital visual disorders and visual impairment.
Developmental Medicine and Child Neurology
10.1111/dmcn.14322.
(In press).
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Bathelt, J;
de Haan, M;
Dale, NJ;
(2019)
Adaptive behaviour and quality of life in school-age children with congenital visual disorders and different levels of visual impairment.
Research in Developmental Disabilities
, 85
pp. 154-162.
10.1016/j.ridd.2018.12.003.
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Battersby, AC;
Braggins, H;
Pearce, MS;
McKendrick, F;
Campbell, M;
Burns, S;
Cale, CM;
... Gennery, AR; + view all
(2019)
Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.
Journal of Clinical Immunology
10.1007/s10875-019-00607-6.
(In press).
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Baud, A;
Heywood, WE;
Little, D;
Gissen, P;
Mills, K;
(2019)
Preparation of iPSCs for Targeted Proteomic Analysis.
Cell-Based Assays Using iPSCs for Drug Development and Testing
, 1994
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