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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 2, 2024. (Total: 233998Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Microcephaly and CASK[original query]
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
PloS one 2017 8 12 (8): e0181791.
Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh
Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy.
Frontiers in neurology 2018 12 9 947.
Kessi Miriam, Xiong Juan, Wu Liwen, Yang Lifen, He Fang, Chen Chen, Pang Nan, Duan Haolin, Zhang Wen, Arafat Ahmed, Yin Fei, Peng Ji
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Frontiers in genetics 2023 5 14 1112153.
You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li
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