المؤلفون: Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

المصدر: Wellcome Open Research, Vol 3 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://wellcomeopenresearch.org/articles/3-46/v1; https://doaj.org/toc/2398-502X

URL الوصول: https://doaj.org/article/c02e7b8508cf4bac9ec09604f83723ec

المؤلفون: Anna Zachariou, Peter D Turnpenny, Linda M. Randolph, Carlos E. Prada, Angelo Selicorni, Nazneen Rahman, Christine Fauth, Ajith Kumar, Deborah J. Shears, Melissa Lees, Valérie Cormier-Daire, Shazia Mahamdallie, Mieke C. Bouma, Kathryn G. Miller, Katherine Neas, Vinod Varghese, Deciphering Developmental Disorders Study, Renata Posmyk, Chey Loveday, Lise Aksglaede, Ruth Newbury-Ecob, Keri Ramsey, Laura Yates, Daniela T. Pilz, David A. Koolen, I. Karen Temple, Beau Crabb, Cyril Mignot, Katrina Tatton-Brown, Daniela Q.C.M. Barge-Schaapveld, Blanca Gener, Cathy Kirally-Borri, Mohnish Suri, Agnete Jørgensen, David Goudie, Catherine Mercer, Carlo Marcelis, Anthony Renwick, Lionel Val Maldergem, Diana Baralle, Naomi Yachelevich, Matthew F. Hunter, Hermine E. Veenstra-Knol, Sarina G. Kant, Moira Blyth, Tessa Homfray, Jeroen Breckpot, Anatalia Labilloy, Tabib Dabir, Richard Fisher

المصدر: Wellcome Open Research

مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Pediatrics, medicine.medical_specialty, viruses, Medicine (miscellaneous), General Biochemistry, Genetics and Molecular Biology, Clinical study, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, medicine, Kyphoscoliosis, overgrowth, Tatton-Brown-Rahman, business.industry, Articles, biochemical phenomena, metabolism, and nutrition, medicine.disease, Obesity, Hypotonia, 3. Good health, 030104 developmental biology, Current management, intellectual disability, 030220 oncology & carcinogenesis, DNMT3A, TATTON-BROWN-RAHMAN SYNDROME, medicine.symptom, business, Research Article

وصف الملف: application/pdf; Electronic-eCollection; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb29b45a78aef0b499193eccdce2526
https://openaccess.sgul.ac.uk/id/eprint/109923/1/a3803595-225c-457f-9a53-ef709c75251a_14430_-_Nazneen_Rahman.pdf