التفاصيل البيبلوغرافية
| العنوان: |
Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort |
| المؤلفون: |
Eggers, S. (Stefanie), Sadedin, S. (Simon), van den Bergen, J.A. (Jocelyn A.), Robevska, G. (Gorjana), Ohnesorg, T. (Thomas), Hewitt, J. (Joanne), Lambeth, L. (Luke), Bouty, A. (Aurore), Knarston, I.M. (Ingrid M.), Tan, T.Y. (Tiong Yang), Cameron, F.J. (Fergus), Werther, G. (George), Hutson, J. (John), O'Connell, M. (Michele), Grover, S.R. (Sonia R.), Heloury, Y. (Yves), Zacharin, M. (Margaret), Bergman, P. (Philip), Kimber, C. (Chris), Brown, J. (Justin), Webb, N. (Nathalie), Hunter, M.F. (Matthew F.), Shubha Srinivasan, Titmuss, A. (Angela), Verge, C.F. (Charles F.), Mowat, D. (David), Smith, G. (Grahame), Smith, J. (Janine), Ewans, L. (Lisa), Shalhoub, C. (Carolyn), Crock, P. (Patricia), Cowell, C. (Chris), Leong, G.M. (GaryM.), Ono, M. (Makato), Lafferty, A.R. (Antony R.), Huynh, T. (Tony), Visser, U. (Uma), Choong, C.S. (Catherine S.), McKenzie, F. (Fiona), Pachter, N. (Nicholas), Thompson, E.M. (Elizabeth M.), Couper, J. (Jennifer), Baxendale, A. (Anne), Gecz, J. (Jozef), Wheeler, B.J. (Benjamin J.), Jefferies, C. (Craig), MacKenzie, K. (Karen), Hofman, P. (Paul), Carter, P. (Philippa), King, R.I. (Richard I.), Krausz, C. (Csilla), Ravenswaaij-Arts, C.M.A. (Conny) van, Looijenga, L.H.J. (Leendert), Drop, S. (Sten), Riedl, S. (Stefan), Cools, M.B.C.M. (Martine), Dawson, A. (Angelika), Juniarto, A.Z. (Achmad), Khadilkar, V. (Vaman), Khadilkar, A. (Anuradha), Bhatia, V. (Vijayalakshmi), Dũng, V.C. (Vũ Chí), Atta, I. (Irum), Raza, J. (Jamal), thi Diem Chi, N. (Nguyen), Hao, T.K. (Tran Kiem), Harley, V.R. (Vincent), Koopman, P. (Peter), Warne, G. (Garry), Faradz, S.M.H. (Sultana), Oshlack, A. (Alicia), Ayers, K.L. (Katie L.), Sinclair, A. (Andrew) |
| المصدر: |
Genome Biology vol. 17 no. 1 |
| سنة النشر: |
2016 |
| المجموعة: |
RePub - Publications from Erasmus University, Rotterdam |
| مصطلحات موضوعية: |
Cohort, Disorders of sex development, Genetic diagnosis, Gonad, Massively parallel sequencing, MPS, Mutation, Ovaries, Ovotestes, Targeted gene panel, Testis, Variant |
| الوصف: |
Background: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively p |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
http://repub.eur.nl/pub/94541Test; urn:hdl:1765/94541 |
| DOI: |
10.1186/s13059-016-1105-y |
| الإتاحة: |
https://doi.org/10.1186/s13059-016-1105-yTest
http://repub.eur.nl/pub/94541Test |
| حقوق: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.A63F8FC4 |
| قاعدة البيانات: |
BASE |
