Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Syndrome and MED12[original query] |
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| 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- |
| Clinical and molecular risk factors for repeat interventions due to symptomatic uterine leiomyomas. American journal of obstetrics and gynecology 2024 8 . Sara Khamaiseh, Anna Äyräväinen, Maare Arffman, Siiri Reinikka, Miika Mehine, Päivi Härkki, Ralf Bützow, Annukka Pasanen, Pia Vahteris |
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