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Plos One|February 6, 2014
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutationsWilliam J Tapper, Nicola Foulds, Nicholas C P Cross, et al.American Journal of Medical Genetics. Part A|June 17, 2008
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomySibel Kantarci, Nicola K Ragge, N Simon Thomas, et al.Genome Research|July 16, 2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, et al.Kidney International|November 28, 2008
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosisRodney D Gilbert, Claire L S Turner, Jane Gibson, et al.American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.Nature Genetics|July 16, 2008
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, et al.American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.Pageof 3