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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 5, 2024. (Total: 234130Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Lissencephaly and ACTB[original query]
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
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr .
Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William
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