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Human Genetics|December 1, 1988
Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytesG Rittner, G Schwanitz, M P Baur, et al.Human Genetics|December 1, 1988
A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization techniqueJ A Crolla, J C LlerenaHuman Genetics|March 5, 2020
CNP deficiency causes severe hypomyelinating leukodystrophy in humansLama Al-Abdi, Fathiya Al Murshedi, Alaa Elmanzalawy, et al.Human Genetics|July 7, 2021
Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin coresTakushi Miyoshi, Inna A Belyantseva, Shin-Ichiro Kitajiri, et al.Human Genetics|December 23, 1977
Enzymatic defects of hereditary porphyrias: an explanation of dominance at the molecular levelG RomeoHuman Genetics|October 1, 1987
One haplotype is associated with the Swiss type of hereditary persistence of fetal hemoglobin in the Yugoslavian populationG D Efremov, I Gjorgovski, N Stojanovski, et al.Human Genetics|January 21, 2014
Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck diseaseFeng Zhang, Xiong Guo, Yinping Zhang, et al.Human Genetics|June 5, 2014
A genetic association study detects haplotypes associated with obstructive heart defectsMing Li, Mario A Cleves, Himel Mallick, et al.Human Genetics|November 1, 1989
Linkage analysis of hereditary thyroid carcinoma with and without pheochromocytomaS A Narod, H Sobol, Y Nakamura, et al.Human Genetics|November 1, 1989
Haplotype frequencies of the collagen type-I genes in the Italian populationM Mottes, L Cugola, P F PignattiPageof 958