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Nature Genetics|October 10, 2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsSheng Chih Jin, Jason Homsy, Samir Zaidi, et al.Neuron|December 23, 2018
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen MalformationDaniel Duran, Xue Zeng, Sheng Chih Jin, et al.Neuron|July 10, 2018
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital HydrocephalusCharuta Gavankar Furey, Jungmin Choi, Sheng Chih Jin, et al.Nature Medicine|October 20, 2020
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalusSheng Chih Jin, Weilai Dong, Adam J Kundishora, et al.Nature Communications|November 17, 2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.Biorxiv : the Preprint Server for Biology|March 30, 2023
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformationsShujuan Zhao, Kedous Y Mekbib, Martijn A van der Ent, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 9, 2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disabilitySébastien Küry, Jinwei Zhang, Thomas Besnard, et al.Nature Genetics|September 29, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsySheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, et al.American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.Pageof 16