Showing results (3491-3500 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|September 15, 2004
The CDKN2A database: Integrating allelic variants with evolution, structure, function, and disease associationJoan A Murphy, Ramiro Barrantes-Reynolds, Rama Kocherlakota, et al.
Human Mutation|September 15, 2004
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disordersAnton V Persikov, Rian J Pillitteri, Priyal Amin, et al.
Human Mutation|September 15, 2004
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotypeMichael Linnebank, Miroslav Janosik, Viktor Kozich, et al.
Human Mutation|June 29, 2004
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlationsChristèle Dubourg, Leïla Lazaro, Laurent Pasquier, et al.
Human Mutation|June 29, 2004
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarrayRosemary Ekong, Steve Jeremiah, David Judah, et al.
Human Mutation|June 29, 2004
A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetesFrédéric Leprêtre, Francis Vasseur, Martine Vaxillaire, et al.
Human Mutation|January 1, 1995
Somatic spectrum of cancer-associated single basepair substitutions in the TP53 gene is determined mainly by endogenous mechanisms of mutation and by selectionM Krawczak, B Smith-Sorensen, J Schmidtke, et al.
Human Mutation|January 1, 1995
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotypeF Chen, T Kishida, M Yao, et al.
Human Mutation|January 1, 1995
Multiplex PCR analysis and genotype-phenotype correlations of frequent APC mutationsA Cama, R Palmirotta, M C Curia, et al.
Human Mutation|January 1, 1994
Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levelsP de Knijff, A M van den Maagdenberg, R R Frants, et al.
Pageof 583