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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 29, 2023. (Total: 223447Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Gonadal Dysgenesis and SRD5A2[original query]
Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
PloS one 2012 7 (3): e32505.
Kalfa Nicolas, Fukami Maki, Philibert Pascal, Audran Francoise, Pienkowski Catherine, Weill Jacques, Pinto Graziella, Manouvrier Sylvie, Polak Michel, Ogata Totsumo, Sultan Charl
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.
European journal of medical genetics 2021 1 64 (3): 104154.
Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Reproductive biology and endocrinology : RB&E 2023 1 21 (1): 2.
Rjiba Khouloud, Mougou-Zerelli Soumaya, Hamida Imen Hadj, Saad Ghada, Khadija Bochra, Jelloul Afef, Slimani Wafa, Hasni Yosra, Dimassi Sarra, Khelifa Hela Ben, Sallem Amira, Kammoun Molka, Abdallah Hamza Hadj, Gribaa Moez, Bignon-Topalovic Joelle, Chelly Sami, Khairi Hédi, Bibi Mohamed, Kacem Maha, Saad Ali, Bashamboo Anu, McElreavey Kenne
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