Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke S. Lambeth, Aurore Bouty, Ingrid Knarston, Tiong Yang Tan, Fergus Cameron, George A. Werther, John Hutson, Michele A. O’Connell, Sonia Grover, Yves Héloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F. Hunter, Shubha Srinivasan, Angela Titmuss, Charles F. Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M. Leong, Makato Ono, Antony Lafferty, Tony Huynh, Uma Visser, Catherine S. Choong, F. Ellis McKenzie, Nicholas Pachter, Elizabeth M. Thompson, Jennifer Couper, Anne Baxendale, Jozef Gécz, Benjamin J. Wheeler, Craig Jefferies, Karen E. MacKenzie, Paul L. Hofman, Philippa Carter, Richard King, Csilla Krausz, Conny M.A. van Ravenswaaij‐Arts, Leendert H. J. Looijenga, S L S Drop, Stefan Riedl, Martine Cools, Angelika J. Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem, Tran Kiem Hao, Vincent R. Harley, Peter Koopman, Garry L. Warne, Sultana MH Faradz, Alicia Oshlack, Katie Ayers, Andrew Sinclair

Genome biology, 2016

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The University of Melbourne, Monash Children’s Hospital, Royal Children's Hospital, Monash Medical Centre, Monash University, Monash Health, Children's Hospital at Westmead, Westmead Institute, UNSW Sydney, Sydney Children's Hospital, The University of Sydney, Royal Prince Alfred Hospital, John Hunter Children's Hospital, Children's Health Queensland Hospital and Health Service, Australian National University, Centenary Institute, Canberra Hospital, The University of Western Australia, Diabetes Australia, King Edward Memorial Hospital, South Australia Pathology, Women's and Children's Hospital, The University of Adelaide, South Australian Health and Medical Research Institute, University of Otago, Auckland District Health Board, Christchurch Hospital, University of Auckland, Starship Children's Health, Canterbury Health Laboratories, University of Florence, University Medical Center Groningen, University of Groningen, St Anna Children's Hospital, Medical University of Vienna, Ghent University Hospital, Shared Health, University of Manitoba, Diponegoro University, Jehangir Hospital, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Vietnam National Children's Hospital, National Institute of Child Health, Hue Central Hospital, Hudson Institute of Medical Research, The University of Queensland, Sinclair Dermatology

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Abstract

This research paper explore the methodology and findings associated with Genome biology. The study delves into the core aspects of the research field, providing significant data and citation impact. (Full abstract processing is available via the OpenAlex API).

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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Abstract

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