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European Cells & Materials|August 31, 2016
Soluble and pelletable factors in porcine, canine and human notochordal cell-conditioned medium: implications for IVD regenerationF C Bach, S A de Vries, F M Riemers, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disordersRoos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, et al.Liver International : Official Journal of the International Association for the Study of the Liver|October 9, 2007
Gamma-glutamyltransferase and rapid virological response as predictors of successful treatment with experimental or standard peginterferon-alpha-2b in chronic hepatitis C non-respondersJilling F Bergmann, Jan M Vrolijk, Peter van der Schaar, et al.European Journal of Human Genetics : EJHG|June 30, 2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen, William Reardon, Elisabeth M Rosser, et al.European Journal of Human Genetics : EJHG|February 2, 2012
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicismDavid A Koolen, Juliette Dupont, Nicole de Leeuw, et al.Journal of Human Genetics|April 18, 2023
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N Olson, et al.Biorxiv : the Preprint Server for Biology|February 26, 2024
YY1 mutations disrupt corticogenesis through a cell-type specific rewiring of cell-autonomous and non-cell-autonomous transcriptional programsMarlene F Pereira, Veronica Finazzi, Ludovico Rizzuti, et al.Nature Genetics|November 16, 2010
A de novo paradigm for mental retardationLisenka E L M Vissers, Joep de Ligt, Christian Gilissen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disordersAlexander J M Dingemans, Max Hinne, Sandra Jansen, et al.Proceedings of the National Academy of Sciences of the United States of America|December 8, 2009
PINK1-dependent recruitment of Parkin to mitochondria in mitophagyCristofol Vives-Bauza, Chun Zhou, Yong Huang, et al.Pageof 88