Showing results (4151-4160 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|January 1, 1997
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresisS Greber-Platzer, P Guldberg, S Scheibenreiter, et al.
Human Mutation|January 1, 1997
SSCP analysis: a blind sensitivity trialA Jordanova, L Kalaydjieva, A Savov, et al.
Human Mutation|November 11, 2005
Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic regionSatoshi Yonezawa, Norio Yoshizaki, Takashi Kageyama, et al.
Human Mutation|August 18, 2018
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB geneRosella Tomanin, Litsa Karageorgos, Alessandra Zanetti, et al.
Human Mutation|September 6, 2018
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-functionMartina Proietti Onori, Balwina Koopal, David B Everman, et al.
Human Mutation|September 11, 2018
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndromeMarta Llorens-Agost, Janna Luessing, Amandine van Beneden, et al.
Human Mutation|August 8, 2018
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPVPrzemyslaw Szafranski, Ewelina Kośmider, Qian Liu, et al.
Human Mutation|February 13, 2010
Massively parallel sequencing of ataxia genes after array-based enrichmentAlexander Hoischen, Christian Gilissen, Peer Arts, et al.
Human Mutation|February 13, 2010
Genetic analysis of von Hippel-Lindau diseaseMorgan Nordstrom-O'Brien, Rob B van der Luijt, Ellen van Rooijen, et al.
Human Mutation|September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene VariantsRossella Tricarico, Mariann Kasela, Cristina Mareni, et al.
Pageof 583