Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Suntharalingham, JP"'
Autor:
Guran, T, Buonocore, F, Saka, N, Ozbek, MN, Aycan, Z, Bereket, A, Bas, F, Darcan, S, Bideci, A, Guven, A, Demir, K, Akinci, A, Buyukinan, M, Aydin, BK, Turan, S, Agladioglu, SY, Atay, Z, Abali, ZY, Tarim, O, Catli, G, Yuksel, B, Akcay, T, Yildiz, M, Ozen, S, Doger, E, Demirbilek, H, Ucar, A, Isik, E, Ozhan, B, Bolu, S, Ozgen, IT, Suntharalingham, JP, Achermann, JC
Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, ofte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c46a2c89a9d00f3bdc92ae081f3887df
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/15613
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/15613
Autor:
Cameron-Pimblett A; Reproductive Medicine Unit, University College London Hospital, London, UK., La Rosa C; Reproductive Medicine Unit, University College London Hospital, London, UK., Davies MC; Reproductive Medicine Unit, University College London Hospital, London, UK., Suntharalingham JP; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK., Ishida M; Center for Endocrinology, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK., Achermann JC; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 1EH, UK., Conway GS; Reproductive Medicine Unit, University College London Hospital, London, UK.
Publikováno v:
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Jul 04. Date of Electronic Publication: 2024 Jul 04.
Autor:
Suntharalingham JP; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Ishida M; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Cameron-Pimblett A; Institute for Women's Health, University College London, London, United Kingdom., McGlacken-Byrne SM; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Buonocore F; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Del Valle I; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Madhan GK; UCL Genomics, UCL Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Brooks T; UCL Genomics, UCL Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Conway GS; Institute for Women's Health, University College London, London, United Kingdom., Achermann JC; Genetics & Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Sep 20; Vol. 14, pp. 1227164. Date of Electronic Publication: 2023 Sep 20 (Print Publication: 2023).
Autor:
Del Valle I; Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Young MD; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Kildisiute G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Ogunbiyi OK; Department of Histopathology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Buonocore F; Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Simcock IC; Department of Clinical Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; National Institute of Health Research (NIHR) Great Ormond Street Biomedical Research Centre, London, United Kingdom.; Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Khabirova E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom., Crespo B; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Moreno N; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Brooks T; UCL Genomics, Zayed Centre for Research, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Niola P; UCL Genomics, Zayed Centre for Research, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Swarbrick K; Department of Histopathology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.; Developmental Biology and Cancer Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Suntharalingham JP; Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., McGlacken-Byrne SM; Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Arthurs OJ; Department of Clinical Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; National Institute of Health Research (NIHR) Great Ormond Street Biomedical Research Centre, London, United Kingdom.; Population, Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, UCL, London, United Kingdom., Behjati S; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.; Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom., Achermann JC; Genetics and Genomic Medicine Research and Teaching Department, University College London (UCL) Great Ormond Street Institute of Child Health, UCL, London, United Kingdom.
Publikováno v:
JCI insight [JCI Insight] 2023 Jul 24; Vol. 8 (14). Date of Electronic Publication: 2023 Jul 24.
Autor:
Suntharalingham JP; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Ishida M; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Del Valle I; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Stalman SE; Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands., Solanky N; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London, United Kingdom., Moore GE; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Achermann JC; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Buonocore F; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publikováno v:
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2022 Aug 18; Vol. 13, pp. 953707. Date of Electronic Publication: 2022 Aug 18 (Print Publication: 2022).
Autor:
McGlacken-Byrne SM; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.; EGA Institute for Women's Health, University College London, London, United Kingdom., Del Valle I; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Quesne Stabej PL; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand., Bellutti L; Laboratory of Development of the Gonads, Genetic Stability Stem Cells and Radiations, CEA/IBFJ/iRCM, University of Paris-Saclay, University Paris City, Fontenay aux Roses, France., Garcia-Alonso L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom., Ocaka LA; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Ishida M; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Suntharalingham JP; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Gagunashvili A; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Ogunbiyi OK; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Mistry T; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Buonocore F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Crespo B; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Moreno N; Developmental Biology and Cancer Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Niola P; UCL Genomics, Zayed Centre for Research, University College London, London, United Kingdom., Brooks T; UCL Genomics, Zayed Centre for Research, University College London, London, United Kingdom., Brain CE; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom., Dattani MT; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom., Kelberman D; GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Vento-Tormo R; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom., Lagos CF; Chemical Biology & Drug Discovery Lab, School of Pharmaceutical Chemistry, Faculty of Medicine and Science, San Sebastián University, Providencia, Santiago, Chile., Livera G; Laboratory of Development of the Gonads, Genetic Stability Stem Cells and Radiations, CEA/IBFJ/iRCM, University of Paris-Saclay, University Paris City, Fontenay aux Roses, France., Conway GS; EGA Institute for Women's Health, University College London, London, United Kingdom., Achermann JC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publikováno v:
JCI insight [JCI Insight] 2022 Mar 08; Vol. 7 (5). Date of Electronic Publication: 2022 Mar 08.
Autor:
Akin L; Department of Paediatric Endocrinology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, Turkey; Department of Paediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri, Turkey. Electronic address: leylabakin@gmail.com., Rizzoti K; Stem Cell Biology and Developmental Genetics Lab, The Francis Crick Institute, London, United Kingdom., Gregory LC; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Corredor B; Departments of Paediatrics and Paediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Le Quesne Stabej P; GOSgene, Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand., Williams H; Division of Cancer and Genetics, Genetics and Genomic Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom., Buonocore F; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Mouilleron S; Structural Biology Science Technology Platforms, The Francis Crick Institute, London, United Kingdom., Capra V; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genova, Italy., McGlacken-Byrne SM; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Martos-Moreno GÁ; Departments of Paediatrics and Paediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Paediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBER Fisiopatología Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain., Azmanov DN; Centre of Medical Research, The University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia; Department of Diagnostic Genomics, PathWest, QEII MedicalCentre, Perth, Western Australia, Australia., Kendirci M; Department of Paediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Kurtoglu S; Department of Paediatric Endocrinology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Suntharalingham JP; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Galichet C; Stem Cell Biology and Developmental Genetics Lab, The Francis Crick Institute, London, United Kingdom., Gustincich S; Istituto Italiano di Tecnologia - IIT, Genova, Italy., Tasic V; University Children's Hospital, Medical School, Skopje, North Macedonia., Achermann JC; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada., Filipovska A; Centre of Medical Research, The University of Western Australia and Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia; Telethon Kids Institute, Perth Children's Hospital, Nedlands, Western Australia, Australia., Tuilpakov A; Department of Endocrine Genetics, Research Centre for Medical Genetics, Moscow, Russia; Department of Inherited Endocrine Disorders, Endocrinology Research Centre, Moscow, Russia., Maghnie M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Department of Paediatrics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Gucev Z; University Children's Hospital, Medical School, Skopje, North Macedonia., Gonen ZB; Oral and Maxillofacial Surgery, Genome and Stem Cell Center, Erciyes University, Kayseri, Turkey., Pérez-Jurado LA; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; South Australian Health and Medical Research Institute (SAHMRI), The University of Adelaide, Adelaide, South Australia, Australia., Robinson I; Stem Cell Biology and Developmental Genetics Lab, The Francis Crick Institute, London, United Kingdom., Lovell-Badge R; Stem Cell Biology and Developmental Genetics Lab, The Francis Crick Institute, London, United Kingdom., Argente J; Departments of Paediatrics and Paediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Department of Paediatrics, Universidad Autónoma de Madrid, Madrid, Spain; CIBER Fisiopatología Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain; IMDEA Food Institute, Campus of International Excellence UAM+CSIC, Madrid, Spain., Dattani MT; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; South Australian Health and Medical Research Institute (SAHMRI), The University of Adelaide, Adelaide, South Australia, Australia; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address: m.dattani@ucl.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Feb; Vol. 24 (2), pp. 384-397. Date of Electronic Publication: 2021 Nov 30.
Autor:
Buonocore F; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Maharaj A; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Qamar Y; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Koehler K; Children's Hospital, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany., Suntharalingham JP; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Chan LF; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Ferraz-de-Souza B; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Hughes CR; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.; The Royal London Childrens Hospital, Barts Health NHS Trust, London, UK., Lin L; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Prasad R; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Allgrove J; The Royal London Childrens Hospital, Barts Health NHS Trust, London, UK., Andrews ET; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Buchanan CR; Department of Child Health, King's College Hospital NHS Foundation Trust, London, UK., Cheetham TD; Newcastle University and Great North Children's Hospital, Newcastle upon Tyne, UK., Crowne EC; Bristol Royal Hospital for Children, University Hospitals Bristol, NHS Foundation Trust, Bristol, UK., Davies JH; Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, SO17 1BJ, UK., Gregory JW; Division of Population Medicine, School of Medicine, Cardiff University, Cardiff, UK., Hindmarsh PC; Departments of Paediatrics, University College London Hospitals, London, UK., Hulse T; Paediatric Endocrinology, Evelina London Children's Hospital, Guy's and St Thomas' NHS Trust, London, UK., Krone NP; Department of Oncology and Metabolism, University of Sheffield, Sheffield Children's Hospital, Sheffield, UK., Shah P; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.; The Royal London Childrens Hospital, Barts Health NHS Trust, London, UK., Shaikh MG; Department of Paediatric Endocrinology, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK., Roberts C; Northern Genetics Service, International Centre for Life, Newcastle, UK., Clayton PE; Developmental Biology & Medicine, Faculty of Biology, Medicine & Health, University of Manchester, and the Royal Manchester Children's Hospital, Manchester University Hospital NHS Foundation Trust, Manchester, UK., Dattani MT; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Thomas NS; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK., Huebner A; Children's Hospital, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany., Clark AJ; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Achermann JC; Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.
Publikováno v:
Journal of the Endocrine Society [J Endocr Soc] 2021 May 11; Vol. 5 (8), pp. bvab086. Date of Electronic Publication: 2021 May 11 (Print Publication: 2021).
Autor:
Kallali W; Children's Hospital El Bechir Hamza of Tunis, Tunis, Tunisia., Gray E; David Elder Medical Practice, Glasgow, UK., Mehdi MZ; Pathology Department, Glan Clwyd Hospital, Rhyl, UK., Lindsay R; Institute of Cardiovascular and Medical Sciences, British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK., Buonocore F; Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Suntharalingham JP; Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Achermann JC; Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK., Donaldson M; Child Health Section of University of Glasgow School of Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
Publikováno v:
European journal of endocrinology [Eur J Endocrinol] 2020 Mar; Vol. 182 (3), pp. K15-K24.
Autor:
Buonocore F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Clifford-Mobley O; Clinical Biochemistry, University College London Hospitals, London, United Kingdom., King TFJ; Reproductive Medicine Unit, University College London Hospitals, London, United Kingdom., Striglioni N; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Man E; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Suntharalingham JP; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Del Valle I; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Lin L; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Lagos CF; Chemical Biology and Drug Discovery Laboratory, Facultad de Medicina y Ciencia, Universidad San Sebastián, Santiago, Chile., Rumsby G; Clinical Biochemistry, University College London Hospitals, London, United Kingdom., Conway GS; Reproductive Medicine Unit, University College London Hospitals, London, United Kingdom., Achermann JC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publikováno v:
Journal of the Endocrine Society [J Endocr Soc] 2019 Oct 10; Vol. 3 (12), pp. 2341-2360. Date of Electronic Publication: 2019 Oct 10 (Print Publication: 2019).