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Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.Cancer Discovery|August 25, 2021
Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase AdaptorYung-Hsin Huang, Chun-Wei Chen, Venkatasubramaniam Sundaramurthy, et al.Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.Histology and Histopathology|March 13, 2013
Morphological spectrum and clinical features of myopathies with tubular aggregatesFabian Funk, Chantal Ceuterick-de Groote, Jean-Jacques Martin, et al.Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.Clinical Genetics|December 28, 2020
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?Diego Lopergolo, Flavia Privitera, Giuseppe Castello, et al.American Journal of Human Genetics|May 29, 2012
RAD21 mutations cause a human cohesinopathyMatthew A Deardorff, Jonathan J Wilde, Melanie Albrecht, et al.Pageof 13