المؤلفون: Arboleda, VA, Lee, H, Sánchez, Fj, Délot, Ec, Sandberg, DE, Grody, WW, Nelson, SF, Vilain, E

المساهمون: Department of Pediatrics & Communicable Diseases, University of Michigan Medical School, Ann Arbor, MI, USA, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA, Department of Urology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA, Department of Human Genetics, Department of Pathology

مصطلحات موضوعية: Sexual Development, Genetic Testing, Endocrinology, High‐Throughput, DNA Sequencing, Genetics, Health Sciences

وصف الملف: application/pdf

العلاقة: Arboleda, VA; Lee, H; Sánchez, Fj; Délot, Ec; Sandberg, DE; Grody, WW; Nelson, SF; Vilain, E (2013). "Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development." Clinical Genetics 83(1): 35-43.; http://hdl.handle.net/2027.42/94734Test; Clinical Genetics; Finkielstain GP, Chen W, Mehta SP et al. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21‐hydroxylase deficiency. J Clin Endocrinol Metab 2011: 96: E161 – E172.; Lux A, Kropf S, Kleinemeier E, Jürgensen M, Thyen U, DSD Network Working Group. Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality. BMC Public Health 2009: 9: 110.; Hughes IA, Houk C, Ahmed SF, Lee PA, Lawson Wilkins Pediatric Endocrine Society/European Society for Paediatric Endocrinology Consensus Group. 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الإتاحة: https://doi.org/10.1111/j.1399-0004.2012.01879.xTest
http://hdl.handle.net/2027.42/94734Test

المؤلفون: Shalitin, S, Josefsberg, Z, Vilain, E, Shomrat, R, Weintrob, N

المصدر: Molecular Genetics and Metabolism ; volume 76, issue 2, page 157-161 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/s1096-7192Test(02)00029-x
https://api.elsevier.com/content/article/PII:S109671920200029X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109671920200029X?httpAccept=text/plainTest

المؤلفون: Boucekkine, C., Toublanc, J.E., Abbas, N., Semrouni, M., Vilain, E., McElreavey, K., Mugneret, F., Fellous, M.

المصدر: Hormone Research ; volume 37, issue 6, page 236-240 ; ISSN 1423-0046 0301-0163

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1159/000182319Test
http://www.karger.com/Article/Pdf/182319Test