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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: Intellectual Disability and MED12[original query]
Next-generation sequencing in X-linked intellectual disability.
European journal of human genetics : EJHG 2015 Feb .
Tzschach Andreas, Grasshoff Ute, Beck-Woedl Stefanie, Dufke Claudia, Bauer Claudia, Kehrer Martin, Evers Christina, Moog Ute, Oehl-Jaschkowitz Barbara, Di Donato Nataliya, Maiwald Robert, Jung Christine, Kuechler Alma, Schulz Solveig, Meinecke Peter, Spranger Stephanie, Kohlhase Jürgen, Seidel Jörg, Reif Silke, Rieger Manuela, Riess Angelika, Sturm Marc, Bickmann Julia, Schroeder Christopher, Dufke Andreas, Riess Olaf, Bauer Pet
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 11 23 (4): 637-644.
Li Dong, Strong Alanna, Shen Kaitlyn M, Cassiman David, Van Dyck Maria, Linhares Natalia Duarte, Valadares Eugenia Ribeiro, Wang Tiancheng, Pena Sergio D J, Jaeken Jaak, Vergano Samantha, Zackai Elaine, Hing Anne, Chow Penny, Ganguly Arupa, Scholz Tasja, Bierhals Tatjana, Philipp Deindl, Hakonarson Hakon, Bhoj Elizabe
MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
Seizure 2023 3 .
Yang Jie-Hua, Liu Zhi-Gang, Liu Chun-Ling, Zhang Ming-Rui, Jia Yan-Lu, Zhai Qiong-Xiang, He Ming-Feng, He Na, Qiao Jing-
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