Showing results (3391-3400 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|January 1, 1997
Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasiaS Ikegawa, K Nakamura, A Nagano, et al.
Human Mutation|January 1, 1997
Three germline mutations in the TP53 geneR S Cornelis, M van Vliet, M J van de Vijver, et al.
Human Mutation|January 1, 1997
Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing systemS Sasaki, T Tokino, T Miyatsu, et al.
Human Mutation|January 1, 1997
A clinical overview of WT1 gene mutationsM Little, C Wells
Human Mutation|January 1, 1997
Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A geneR Draghia, F Letourneur, C Drugan, et al.
Human Mutation|January 1, 1997
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotypeM A Kroos, M Van der Kraan, O P Van Diggelen, et al.
Human Mutation|January 1, 1997
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIaJ Shen, Y Bao, Y T Chen
Human Mutation|January 1, 1996
Glucocerebrosidase (Gaucher disease)E Beutler, T Gelbart
Human Mutation|January 1, 1993
Mutations and polymorphisms in the human ornithine transcarbamylase geneM Tuchman
Human Mutation|January 1, 1993
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfectaM Mottes, M M Gomez Lira, M Valli, et al.
Pageof 583