Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 31, 2023. (Total: 217454Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 5 (of 5 Records)

Query Trace: Syndrome and MED12[original query]
Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.
PLoS genetics 2016 Feb 12 (2): e1005850.
Mäkinen Netta, Aavikko Mervi, Heikkinen Tuomas, Taipale Minna, Taipale Jussi, Koivisto-Korander Riitta, Bützow Ralf, Vahteristo P
MED12 mutations and fumarate hydratase inactivation in uterine adenomyomas.
Human reproduction open 2018 2018 (4): hoy020.
Heikkinen Tuomas, Äyräväinen Anna, Hänninen Janne, Ahvenainen Terhi, Bützow Ralf, Pasanen Annukka, Vahteristo P
Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report.
Turk psikiyatri dergisi = Turkish journal of psychiatry 2020 9 31 (3): 216-220.
Geni? Bahad?r, ?ahin Ferit, Co?ar Behc
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-
TOP