Browse by UCL Department: listings for include files
- UCL (194612)
- UCL (194612)
- Provost and Vice Provost Offices (193387)
- School of Life and Medical Sciences (94955)
- Faculty of Population Health Sciences (32051)
- UCL GOS Institute of Child Health (10681)
- Genetics and Genomic Medicine Dept (1394)
- UCL GOS Institute of Child Health (10681)
- Faculty of Population Health Sciences (32051)
- School of Life and Medical Sciences (94955)
- Provost and Vice Provost Offices (193387)
- UCL (194612)
Number of items at this level: 1393.
1
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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A
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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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Abarrategi, A;
Gambera, S;
Alfranca, A;
Rodriguez-Milla, MA;
Perez-Tavarez, R;
Rouault-Pierre, K;
Waclawiczek, A;
... García-Castro, J; + view all
(2018)
c-Fos induces chondrogenic tumor formation in immortalized human mesenchymal progenitor cells.
Scientific Reports
, 8
, Article 15615. 10.1038/s41598-018-33689-0.
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Abarrategi, A;
Mian, SA;
Passaro, D;
Rouault-Pierre, K;
Grey, W;
Bonnet, D;
(2018)
Modeling the human bone marrow niche in mice: From host bone marrow engraftment to bioengineering approaches.
Journal of Experimental Medicine
, 215
(3)
pp. 729-743.
10.1084/jem.20172139.
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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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Abdel-Khalik, J;
Hearn, T;
Dickson, AL;
Crick, PJ;
Yutuc, E;
Austin-Muttit, K;
Bigger, BW;
... Wang, Y; + view all
(2021)
Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates.
The Journal of Steroid Biochemistry and Molecular Biology
, 206
, Article 105794. 10.1016/j.jsbmb.2020.105794.
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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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Achermann, John C;
(2024)
Steroidogenic factor-1 (NR5A1): orphan nuclear receptor finds a home in human reproduction, and beyond.
EBioMedicine
, 100
, Article 104984. 10.1016/j.ebiom.2024.104984.
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Achermann, JC;
(2011)
SF-1 and DAX-1 in human disease.
Doctoral thesis , University of Cambridge (Special Regulations).
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Achermann, JC;
(1998)
The pathophysiology of post-irradiation growth hormone insufficiency.
Doctoral thesis , UNSPECIFIED.
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Achermann, JC;
Domenice, S;
Bachega, TASS;
Nishi, MY;
Mendonca, BB;
(2015)
Disorders of sex development: effect of molecular diagnostics.
Nature Reviews Endocrinology
, 11
(8)
pp. 478-488.
10.1038/nrendo.2015.69.
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Achermann, JC;
Eugster, EA;
Shulman, DI;
(2011)
Ambiguous genitalia.
The Journal of Clinical Endocrinology & Metabolism
, 96
(3)
33A - 34A.
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Achermann, JC;
Gu, WX;
Kotlar, TJ;
Meeks, JJ;
Sabacan, LP;
Seminara, SB;
Habiby, RL;
... Jameson, JL; + view all
(1999)
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
The Journal of Clinical Endocrinology & Metabolism
, 84
(12)
4497 - 4500.
10.1210/jc.84.12.4497.
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Achermann, JC;
Ito, M;
Silverman, BL;
Habiby, RL;
Pang, S;
Rosler, A;
Jameson, JL;
(2001)
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
The Journal of Clinical Endocrinology & Metabolism
, 86
(7)
3171 - 3175.
10.1210/jc.86.7.3171.
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Achermann, JC;
Ozisik, G;
Meeks, JJ;
Jameson, JL;
(2002)
Genetic causes of human reproductive disease.
The Journal of Clinical Endocrinology & Metabolism
, 87
(6)
2447 - 2454.
10.1210/jc.87.6.2447.
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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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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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ADES, AE;
PARKER, S;
GILBERT, R;
TOOKEY, PA;
BERRY, T;
HJELM, M;
WILCOX, AH;
... PECKHAM, CS; + view all
(1993)
MATERNAL PREVALENCE OF TOXOPLASMA ANTIBODY BASED ON ANONYMOUS NEONATAL SEROSURVEY - A GEOGRAPHICAL ANALYSIS.
EPIDEMIOL INFECT
, 110
(1)
127 - 133.
10.1017/S0950268800050755.
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Ades, AE;
Soriano-Arandes, A;
Alarcon, A;
Bonfante, F;
Thorne, C;
Peckham, CS;
Giaquinto, C;
(2020)
Vertical transmission of Zika virus and its outcomes: a Bayesian synthesis of prospective studies.
The Lancet Infectious Diseases
10.1016/S1473-3099(20)30432-1.
(In press).
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Ades, AE;
Thorne, C;
Soriano-Arandes, A;
Peckham, CS;
Brown, DW;
Lang, D;
Morris, JG;
... Giaquinto, C; + view all
(2020)
Researching Zika in pregnancy: lessons for global preparedness.
The Lancet Infectious Diseases
, 20
(4)
E61-E68.
10.1016/S1473-3099(20)30021-9.
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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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Aggarwal, D;
Page, AJ;
Schaefer, U;
Savva, GM;
Myers, R;
Volz, E;
Ellaby, N;
... Harrison, EM; + view all
(2022)
Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission.
Nature Communications
, 13
, Article 1012. 10.1038/s41467-022-28371-z.
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Aguti, Sara;
Guirguis, Fady;
Bönnemann, Carsten;
Muntoni, Francesco;
Bolduc, Veronique;
Zhou, Haiyan;
(2022)
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy.
In: Maruyama, R and Yokota, T, (eds.)
Methods in Molecular Biology.
(pp. 387-407).
Springer Nature: New York, NY, USA.
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Aguti, S;
Bolduc, V;
Ala, P;
Turmaine, M;
Bönnemann, CG;
Muntoni, F;
Zhou, H;
(2020)
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Molecular Therapy - Nucleic Acids
, 21
pp. 205-216.
10.1016/j.omtn.2020.05.029.
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Aguti, S;
Malerba, A;
Zhou, H;
(2018)
The progress of AAV-mediated gene therapy in neuromuscular disorders.
Expert Opinion on Biological Therapy
, 18
(6)
pp. 681-693.
10.1080/14712598.2018.1479739.
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Ahmad, Mushtaha;
ElRasoul, Alaa;
Sedayou, Raneem;
Tamboosi, Mohammed;
Mahroos, Hanan;
Alrashed, Shaimaa;
Tunkar, Mariam;
... Alshaikh, Nahla M; + view all
(2024)
Safety and effectiveness of ataluren in patients with Duchenne muscular dystrophy: single-center experience from Saudi Arabia.
Journal of International Medical Research
, 52
(12)
10.1177/03000605241305252.
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Ahmed, SF;
Achermann, JC;
Alderson, J;
Crouch, NS;
Elford, S;
Hughes, IA;
Krone, NP;
... Turner, HE; + view all
(2021)
Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021).
Clinical Endocrinology
, 95
(6)
pp. 818-840.
10.1111/cen.14528.
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Ahmed, SF;
Achermann, JC;
Arl, W;
Balen, AH;
Conway, G;
Edwards, ZL;
Elford, S;
... Willis, D; + view all
(2011)
UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.
Clinical Endocrinology
, 75
(1)
12 - 26.
10.1111/j.1365-2265.2011.04076.x.
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Akin, L;
Rizzoti, K;
Gregory, LC;
Corredor, B;
Le Quesne Stabej, P;
Williams, H;
Buonocore, F;
... Dattani, MT; + view all
(2022)
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genetics in Medicine
, 24
(2)
pp. 384-397.
10.1016/j.gim.2021.09.019.
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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
(2018)
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of Clinical Investigation
, 128
(4)
pp. 1496-1508.
10.1172/JCI98589.
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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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Alatzoglou, KS;
Gregory, LC;
Dattani, M;
(2020)
Development of the Pituitary Gland.
Comprehensive Physiology
, 10
(2)
pp. 389-413.
10.1002/cphy.c150043.
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Alba-González, Anabel;
Dragomir, Elena I;
Haghdousti, Golsana;
Yáñez, Julián;
Dadswell, Chris;
González-Méndez, Ramón;
Wilson, Stephen W;
... Folgueira, Mónica; + view all
(2024)
Manganese Overexposure Alters Neurogranin Expression and Causes Behavioral Deficits in Larval Zebrafish.
International Journal of Molecular Sciences
, 25
(9)
, Article 4933. 10.3390/ijms25094933.
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Aldossary, Ahmad Mohammad;
(2018)
Correction of the ΔF508 mutation in the CFTR Gene by CRISPR/Cas9 system.
Doctoral thesis (Ph.D), UCL (University College London).
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Alhamdi, Alaa A;
Mackie, Shona;
Trueman, Ryan P;
Rayner, Melissa LD;
(2025)
Pharmacologically targeting Schwann cells to improve regeneration following nerve damage.
Frontiers in Cell and Developmental Biology
, 13
, Article 1603752. 10.3389/fcell.2025.1603752.
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Alhawaj, Ali Fouad Yassin;
(2025)
Integrative Genomic Analysis of Cytogenetically Normal Acute Myeloid Leukaemia.
Doctoral thesis (Ph.D), UCL (University College London).
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Ali, Naseer;
Maharaj, Avinaash Vickram;
Buonocore, Federica;
Achermann, John C;
Metherell, Louise A;
(2022)
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Frontiers in Endocrinology
, 13
, Article 860055. 10.3389/fendo.2022.860055.
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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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Alrashidi, H;
Eaton, S;
Heales, S;
(2021)
Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease.
Neurochemistry International
, 145
, Article 105009. 10.1016/j.neuint.2021.105009.
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Alston, CL;
Davison, JE;
Meloni, F;
van der Westhuizen, FH;
He, L;
Hornig-Do, H-T;
Peet, AC;
... Taylor, RW; + view all
(2012)
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Journal of Medical Genetics
, 49
(9)
569 -577.
10.1136/jmedgenet-2012-101146.
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Altmann, A;
Ryten, M;
Di Nunzio, M;
Ravizza, T;
Tolomeo, D;
Reynolds, RH;
Somani, A;
... Sisodiya, SM; + view all
(2021)
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathology and Applied Neurobiology
10.1111/nan.12758.
(In press).
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Altmann, A;
Cash, DM;
Bocchetta, M;
Heller, C;
Reynolds, R;
Moore, K;
Convery, RS;
... Rohrer, JD; + view all
(2020)
Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.
Brain Communications
10.1093/braincomms/fcaa122.
(In press).
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Andersen, MS;
Bandres-Ciga, S;
Reynolds, RH;
Hardy, J;
Ryten, M;
Krohn, L;
Gan-Or, Z;
... Pihlstrøm, L; + view all
(2021)
Heritability enrichment implicates microglia in Parkinson's disease pathogenesis.
Annals of Neurology
, 89
(5)
pp. 942-951.
10.1002/ana.26032.
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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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Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID-19 in children: Part 1.
Clinical and Experimental Dermatology
, 46
(3)
pp. 444-450.
10.1111/ced.14481.
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Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 2.
Clinical and Experimental Dermatology
, 46
(3)
pp. 451-461.
10.1111/ced.14482.
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Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 3.
Clinical and Experimental Dermatology
, 46
(3)
pp. 462-472.
10.1111/ced.14483.
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Andoniadou, CL;
Signore, M;
Sajedi, E;
Gaston-Massuet, C;
Kelberman, D;
Burns, AJ;
Itasaki, N;
... Martinez-Barbera, JP; + view all
(2007)
Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain.
DEVELOPMENT
, 134
(8)
1499 - 1508.
10.1242/dev.02829.
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Angelova, PR;
Choil, ML;
Berezhnov, A;
Horrocks, MH;
Hughes, CD;
De, S;
Rodrigues, M;
... Gandhi, S; + view all
(2020)
Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation.
Cell Death & Differentiation
, 27
pp. 2781-2796.
10.1038/s41418-020-0542-z.
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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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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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Anttila, V;
Bulik-Sullivan, B;
Finucane, HK;
Walters, RK;
Bras, J;
Duncan, L;
Escott-Price, V;
... Neale, BM; + view all
(2018)
Analysis of shared heritability in common disorders of the brain.
Science
, 360
(6395)
, Article eaap8757. 10.1126/science.aap8757.
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Apps, John R;
Gonzalez-Meljem, Jose Mario;
Guiho, Romain;
Pickles, Jessica C;
Prince, Eric;
Schwalbe, Edward;
Joshi, Nikhil;
... Martinez-Barbera, Juan Pedro; + view all
(2024)
Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression.
Acta Neuropathologica Communications
, 12
, Article 127. 10.1186/s40478-024-01838-4.
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Apps, JR;
Carreno, G;
Mario Gonzalez-Meljem, J;
Haston, S;
Guiho, R;
Cooper, JE;
Manshaei, S;
... Martinez-Barbera, JP; + view all
(2018)
Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target.
Acta Neuropathologica
, 135
(5)
pp. 757-777.
10.1007/s00401-018-1830-2.
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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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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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Arthurs, OJ;
Thayyil, S;
Olsen, OE;
Addison, S;
Wade, A;
Jones, R;
Norman, W;
... Owens, CM; + view all
(2014)
Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children.
European Radiology
, 24
(11)
pp. 2876-2884.
10.1007/s00330-014-3313-8.
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Ashford, F;
Best, A;
Dunn, SJ;
Ahmed, Z;
Siddiqui, H;
Melville, J;
Wilkinson, S;
... Jamrozy, D; + view all
(2022)
SARS-CoV-2 Testing in the Community: Testing Positive Samples with the TaqMan SARS-CoV-2 Mutation Panel To Find Variants in Real Time.
Journal of Clinical Microbiology
, 60
(4)
, Article e02408-21. 10.1128/jcm.02408-21.
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Augustin, K;
Khabbush, A;
Williams, S;
Eaton, SJ;
Orford, M;
Cross, H;
Heales, SJ;
... Williams, R; + view all
(2018)
Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders.
The Lancet Neurology
, 17
(1)
pp. 84-93.
10.1016/S1474-4422(17)30408-8.
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Aung, Yuri;
Kokotsis, Vasilis;
Yin, Kyla Ng;
Banerjee, Kausik;
Butler, Gary;
Dattani, Mehul T;
Dimitri, Paul;
... Howard, Sasha R; + view all
(2023)
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Frontiers in Endocrinology
, 14
, Article 1226839. 10.3389/fendo.2023.1226839.
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B
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Bacchelli, C;
Moretti, FA;
Carmo, M;
Adams, S;
Stanescu, HC;
Pearce, K;
Madkaikar, M;
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