Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Hypogonadism and SOX10[original query] |
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Functional analysis of SOX10 mutations identified in Chinese patients with Kallmann syndrome. Gene 2019 3 702 99-106. Dai Wenting, Wu Jiayu, Zhao Yaguang, Jiang Fang, Zheng Ruizhi, Chen Dan-Na, Men Meichao, Li Jia- |
Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10. Neural plasticity 2020 9 2020 8860837. Yu Xiaoyu, Lin Yun, Wu H |
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease. Molecular and cellular endocrinology 2020 8 517 110968. Gach Agnieszka, Pinkier Iwona, Sa?aci?ska Kinga, Szarras-Czapnik Maria, Salachna Dominik, Kuci?ska Agata, Rybak-Krzyszkowska Magda, Sakowicz Aga |
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan . Rojas Rebecca A, Kutateladze Anna A, Plummer Lacey, Stamou Maria, Keefe David L, Salnikov Kathyrn B, Delaney Angela, Hall Janet E, Sadreyev Ruslan, Ji Fei, Fliers Eric, Gambosova Katarina, Quinton Richard, Merino Paulina M, Mericq Veronica, Seminara Stephanie B, Crowley William F, Balasubramanian Ravikum |
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review. Clinical endocrinology 2022 9 97 (6): 804-813. Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush |
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- Page last updated:Apr 22, 2024
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