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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Choanal Atresia and CHD7[original query]
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Journal of medical genetics 2006 Apr 43 (4): 306-14.
Jongmans M C J, Admiraal R J, van der Donk K P, Vissers L E L M, Baas A F, Kapusta L, van Hagen J M, Donnai D, de Ravel T J, Veltman J A, Geurts van Kessel A, De Vries B B A, Brunner H G, Hoefsloot L H, van Ravenswaaij C M
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
BMC medical genetics 2019 May 20 (1): 93.
Chen Xiang, Yan Kai, Gao Yanyan, Wang Huijun, Chen Guoqiang, Wu Bingbing, Qin Qian, Yang Lin, Zhou Wenh
Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.
The Journal of clinical endocrinology and metabolism 2019 11 105 (5): .
Li Jia-Da, Wu Jiayu, Zhao Yaguang, Wang Xinying, Jiang Fang, Hou Qiao, Chen Dan-Na, Zheng Ruizhi, Yu Renhe, Zhou Wei, Men Meich
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