Human Genome Epidemiology Literature Finder
Records 1 - 3 (of 3 Records) |
Query Trace: Syndrome and ACTG1[original query] |
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Rare ACTG1 variants in fetal microlissencephaly. European journal of medical genetics 2015 Aug 58 (8): 416-8. Poirier Karine, Martinovic Jelena, Laquerrière Annie, Cavallin Mara, Fallet-Bianco Catherine, Desguerre Isabelle, Valence Stephanie, Grande-Goburghun Jocelyne, Francannet Christine, Deleuze Jean-François, Boland Anne, Chelly Jamel, Bahi-Buisson Nad |
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. American journal of medical genetics. Part A 2016 May . Di Donato Nataliya, Kuechler Alma, Velgano Samantha, Heinritz Wolfram, Bodurtha Joann, Merchant Sabiha R, Breningstall Galen, Ladda Roger, Sell Susan, Altmüller Janine, Bögershausen Nina, Timms Andrew E, Hackmann Karl, Schrock Evelin, Collins Sarah, Olds Carissa, Rump Andreas, Dobyns William |
Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort. Journal of human genetics 2022 10 68 (1): 39-46. Janani Dakshina Moorthy, Ramasubramanyan Sharada, Chellappa Venkatesh, Santhanam Rekha, Manickam Ranjani, Shameli Jeevamani, Balasundaram Us |
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