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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2023. (Total: 223870Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Lissencephaly and ARX[original query]
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
PloS one 2017 9 12 (9): e0185103.
González-Morón Dolores, Vishnopolska Sebastián, Consalvo Damián, Medina Nancy, Marti Marcelo, Córdoba Marta, Vazquez-Dusefante Cecilia, Claverie Santiago, Rodríguez-Quiroga Sergio Alejandro, Vega Patricia, Silva Walter, Kochen Silvia, Kauffman Marcelo Andr
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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