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Frontiers in Physiology|April 27, 2019
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK PathwayIvan K Popov, Susan M Hiatt, Sandra Whalen, et al.American Journal of Medical Genetics. Part A|April 23, 2018
Two novel cases expanding the phenotype of SETD2-related overgrowth syndromeMaartje C van Rij, Iris H I M Hollink, Paulien Anna Terhal, et al.Nature Genetics|June 12, 2012
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndromeLeopold Groesser, Eva Herschberger, Arno Ruetten, et al.Oncotarget|October 14, 2015
Heterogeneity revealed by integrated genomic analysis uncovers a molecular switch in malignant uveal melanomaMark J de Lange, Sake I van Pelt, Mieke Versluis, et al.American Journal of Medical Genetics. Part A|August 16, 2014
Central 22q11.2 deletionsPatrick Rump, Nicole de Leeuw, Anthonie J van Essen, et al.American Journal of Medical Genetics. Part A|December 11, 2021
Further delineation of phenotypic spectrum of SCN2A-related disorderRuth Richardson, Diana Baralle, Christopher Bennett, et al.Human Molecular Genetics|July 10, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gatingYongqiang Zhang, Georgios Tachtsidis, Claudia Schob, et al.European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.American Journal of Medical Genetics. Part A|April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autismJill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.Clinical Genetics|February 22, 2024
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profileDmitrijs Rots, Kathleen Rooney, Raissa Relator, et al.Pageof 5