Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Hypogonadism and POLR3A[original query] |
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Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism. Clinical genetics 2019 Feb 95 (2): 320-324. Kotan Leman D, Isik Emregul, Turan Ihsan, Mengen Eda, Akkus Gamze, Tastan Mehmet, Gurbuz Fatih, Yuksel Bilgin, Topaloglu A Kem |
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian journal of andrology 2020 11 23 (3): 288-293. Zhang Jian, Tang Shu-Yan, Zhu Xiao-Bin, Li Peng, Lu Jian-Qi, Cong Jiang-Shan, Wang Ling-Bo, Zhang Feng, Li Zhe |
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C. Journal of medical genetics 2023 5 . Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Berna |
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