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Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 30, 2020
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadismJames S Acierno, Cheng Xu, Georgios E Papadakis, et al.Annals of Neurology|November 26, 2013
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsyJohannes R Lemke, Rik Hendrickx, Kirsten Geider, et al.Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.Nature Genetics|February 26, 2008
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformationsSheila Unger, Detlef Böhm, Frank J Kaiser, et al.Prenatal Diagnosis|June 13, 2014
High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic powerBeatrice Oneda, Rosa Baldinger, Regina Reissmann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variantsCheng Xu, Daniele Cassatella, Almer M van der Sloot, et al.Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.Plos Biology|March 27, 2014
Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signalingRajesh Jayachandran, Xiaolong Liu, Somdeb Bosedasgupta, et al.Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.Pageof 9