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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 19, 2024. (Total: 231613Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Kallmann Syndrome and SOX10[original query]
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
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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