Human Genome Epidemiology Literature Finder
Records 1 - 6 (of 6 Records) |
Query Trace: Abnormalities and NR5A1[original query] |
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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 |
Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development. Reports of biochemistry & molecular biology 2017 11 6 (1): 59-65. Shojaei Azadeh, Ebrahimzadeh-Vesal Reza, Ahani Ali, Razzaghy-Azar Maryam, Khakpour Golnaz, Ghazi Farideh, Tavakkoly-Bazzaz Jav |
Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Animal reproduction science 2020 10 223 106632. Nowacka-Woszuk Joanna, Szczerbal Izabela, Stachowiak Monika, Dzimira Stanislaw, Nizanski Wojciech, Biezynski Janusz, Nowak Tomasz, Gogulski Maciej, Switonski Mar |
Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency. Journal of the Endocrine Society 2021 6 5 (7): bvab032. Eskenazi Sarah, Bachelot Anne, Hugon-Rodin Justine, Plu-Bureau Genevieve, Gompel Anne, Catteau-Jonard Sophie, Molina-Gomes Denise, Dewailly Didier, Dodé Catherine, Christin-Maitre Sophie, Touraine Philip |
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. American journal of medical genetics. Part A 2021 3 185 (6): 1666-1677. Mazen Inas, Mekkawy Mona, Kamel Alaa, Essawi Mona, Hassan Heba, Abdel-Hamid Mohamed, Amr Khalda, Soliman Hala, El-Ruby Mona, Torky Ahmed, El Gammal Mona, Elaidy Aya, Bashamboo Anu, McElreavey Kenne |
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 |
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- Page last updated:Apr 22, 2024
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