Showing results (31-40 of 281) with videos related to
Sort By:
Pageof 29
The Journal of Biological Chemistry|April 28, 2006
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylationKentaro Kato, Charlotte Jeanneau, Mads Agervig Tarp, et al.European Journal of Human Genetics : EJHG|June 18, 2015
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9Katharina Danhauser, Diran Herebian, Tobias B Haack, et al.Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2017
KMT2B rare missense variants in generalized dystoniaMichael Zech, Robert Jech, Petra Havránková, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|July 11, 2007
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosaAnneke I den Hollander, Janneke J C van Lith-Verhoeven, Maarten L Arends, et al.Plos One|December 5, 2012
A high resolution genome-wide scan for significant selective sweeps: an application to pooled sequence data in laying chickensSaber Qanbari, Tim M Strom, Georg Haberer, et al.The Journal of Investigative Dermatology|December 22, 2004
A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33Kathrin A Giehl, Gertrud N Eckstein, Anna Benet-Pagès, et al.BMC Genomics|July 6, 2013
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverageSandra Jansen, Bernhard Aigner, Hubert Pausch, et al.Journal of Hepatology|August 20, 2014
The genomic landscape of hepatoblastoma and their progenies with HCC-like featuresMelanie Eichenmüller, Franziska Trippel, Michaela Kreuder, et al.Clinical Epigenetics|March 7, 2018
Overexpression of UHRF1 promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastomaAlexander Beck, Franziska Trippel, Alexandra Wagner, et al.Metabolic Brain Disease|August 10, 2016
Neonatal encephalocardiomyopathy caused by mutations in VARS2Fabian Baertling, Bader Alhaddad, Annette Seibt, et al.Pageof 29