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Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Inherited 2q23.1 microdeletions involving the MBD5 locusShereen Tadros, Rubin Wang, Jonathan J Waters, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infantPing Zhang, Bingbing Wu, Yulan Lu, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Clinical value of genetic analysis in prenatal diagnosis of short femurJialiu Liu, Linhuan Huang, Zhiming He, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patientsVirginia Pérez-Grijalba, Alberto García-Oguiza, María López, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Characterization of the renal phenotype in RMND1-related mitochondrial diseaseBrian J Shayota, Nhon T Le, Nasim Bekheirnia, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysisMeena Balasubramanian, Emma Hobson, Mars Skae, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotypeSylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviorsAmit Kumar Mitra, Jessica Dodge, Jody Van Ness, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationPatrick R Blackburn, Monique Williams, Margot A Cousin, et al.
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