Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Hemifacial Microsomia[original query] |
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A novel de novo mutation in MYT1, the unique OAVS gene identified so far. European journal of human genetics : EJHG 2017 Jun . Berenguer Marie, Tingaud-Sequeira Angele, Colovati Mileny, Melaragno Maria I, Bragagnolo Silvia, Perez Ana B A, Arveiler Benoit, Lacombe Didier, Rooryck Caroli |
Candidate genes of oculo-auriculo-vertebral spectrum in 22q region: A systematic review. American journal of medical genetics. Part A 2020 9 182 (11): 2624-2631. Glaeser Andressa Barreto, Santos Andressa Schneiders, Diniz Bruna Lixinski, Deconte Desireé, Rosa Rafael Fabiano Machado, Zen Paulo Ricardo Gazzo |
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2021 8 59 (9): 1114-1124. Güleray Naz, Ko?ukcu Can, O?uz Sümeyra, Ürel Demir Gizem, Ta?k?ran Ekim Z, Kiper Pelin Özlem ?im?ek, Utine Gülen Eda, Alanay Yasemin, Boduro?lu Koray, Alika?ifo?lu Mehm |
Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia. Frontiers in genetics 2021 6 12 580761. Chen Xiaojun, Liu Fatao, Mar Aung Zin, Zhang Yan, Chai Ga |
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- Page last updated:May 28, 2024
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