SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

por Hersmus, Remko, Stoop, Hans, Turbitt, Erin, Oosterhuis, J Wolter, Drop, Stenvert LS, Sinclair, Andrew H, White, Stefan J, Looijenga, Leendert HJ
Publicado 2012

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

por Eggers, Stefanie, Smith, Katherine R, Bahlo, Melanie, Looijenga, Leendert HJ, Drop, Stenvert LS, Juniarto, Zulfa A, Harley, Vincent R, Koopman, Peter, Faradz, Sultana MH, Sinclair, Andrew H
Publicado 2015