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Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.American Journal of Human Genetics|January 31, 2012
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathyPia Ostergaard, Michael A Simpson, Antonella Mendola, et al.JCI Insight|December 22, 2025
Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome from a lymphatic perspectiveKazim Ogmen, Sara E Dobbins, Rose Yinghan Behncke, et al.Human Mutation|July 26, 2012
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxaBert Callewaert, Chi-Ting Su, Tim Van Damme, et al.Frontiers in Genetics|June 21, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiencesMichelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, et al.Journal of Medical Genetics|April 8, 2022
Overlapping cortical malformations in patients with pathogenic variants in <i>GRIN1</i> and <i>GRIN2B</i>Stefanie Brock, Annie Laquerriere, Florent Marguet, et al.European Journal of Human Genetics : EJHG|April 17, 2014
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndromeDorien Schepers, Alexander J Doyle, Gretchen Oswald, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2021
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypesSilvia Martin-Almedina, Kazim Ogmen, Ege Sackey, et al.Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.Pageof 16