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Human Genetics|April 6, 2002
Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequenciesTatiana S Uinuk-Ool, Naoko Takezaki, Rem I Sukernik, et al.Human Genetics|April 6, 2002
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocationTristan W McMullan, John A Crolla, Simon G Gregory, et al.Human Genetics|April 6, 2002
A case of segmental paternal isodisomy of chromosome 14Karen J Coveler, Sam P Yang, ReidV Sutton, et al.Human Genetics|April 6, 2002
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutationsYolanda Martín, Ana Valero, Emilia del Castillo, et al.Human Genetics|April 6, 2002
CIA30 complex I assembly factor: a candidate for human complex I deficiency?Rolf Janssen, Jan Smeitink, Roel Smeets, et al.Human Genetics|April 10, 2002
Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severityStefano Regis, Fabio Corsolini, Marina Stroppiano, et al.Human Genetics|April 10, 2002
The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulinDavid Morgan, Judith Goodship, Jeffrey J Essner, et al.Human Genetics|February 4, 2010
Distinct breakpoints in two cases with deletion in the Yp11.2 region in Japanese populationReiko Kumagai, Yoshitoshi Sasaki, Takuya Tokuta, et al.Human Genetics|January 1, 1991
Frequency and distribution of aneuploidy in human female gametesF PellestorHuman Genetics|January 1, 1991
A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutationC Gille, K Grade, C CoutellePageof 957