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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 CRADD[original query]
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
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
European journal of human genetics : EJHG 2019 3 27 (8): 1235-1243.
Polla Daniel L, Rahikkala Elisa, Bode Michaela K, Määttä Tuomo, Varilo Teppo, Loman Thyrza, Philips Anju K, Kurki Mitja, Palotie Aarno, Körkkö Jarmo, Vieira Päivi, Avela Kristiina, Jacquemin Valérie, Pirson Isabelle, Abramowicz Marc, de Brouwer Arjan P M, Kuismin Outi, van Bokhoven Hans, Järvelä Ir
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