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Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study JOURNAL ARTICLE published 1979 in Human Genetics |
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation JOURNAL ARTICLE published December 2019 in Human Genetics Research funded by São Paulo Research Foundation/CAPES (13/08135-2) |
Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France JOURNAL ARTICLE published August 2003 in Human Genetics |
Chromosomal damage in chronic alcohol users JOURNAL ARTICLE published 1975 in Human Genetics |
Sequence polymorphism in kringle IV 37 in linkage disequilibrium with the apolipoprotein (a) size polymorphism JOURNAL ARTICLE published March 1995 in Human Genetics |
Genetic architecture of retinoic-acid signaling-associated ocular developmental defects JOURNAL ARTICLE published September 2019 in Human Genetics |
The human gene encoding insulin-like growth factor I is located on chromosome 12 JOURNAL ARTICLE published February 1985 in Human Genetics |
Markers that discriminate between European and African ancestry show limited variation within Africa JOURNAL ARTICLE published 1 December 2002 in Human Genetics |
Distribution of human adult lactase phenotypes in the population of Austria JOURNAL ARTICLE published December 1982 in Human Genetics |
The Ca 2+ -sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism JOURNAL ARTICLE published 2 July 1996 in Human Genetics |
A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD JOURNAL ARTICLE published September 2017 in Human Genetics |
SNTG1, the gene encoding ?1-syntrophin: a candidate gene for idiopathic scoliosis JOURNAL ARTICLE published 1 June 2004 in Human Genetics |
The human T locus and spina bifida risk JOURNAL ARTICLE published November 2004 in Human Genetics |
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations JOURNAL ARTICLE published February 2010 in Human Genetics |
Regions of homozygosity and their impact on complex diseases and traits JOURNAL ARTICLE published January 2011 in Human Genetics |
Missense mutations in hMLH1 associated with colorectal cancer JOURNAL ARTICLE published November 1999 in Human Genetics |
Heterozygous expression of X-linked chondrodysplasia punctata JOURNAL ARTICLE published December 1990 in Human Genetics |
Populationsgenetik der Adenylatkinase (EC 2.7.4.3.) JOURNAL ARTICLE published July 1968 in Human Genetics |
Evidence of a preferential inactivation of the paternally derived X chromosome in a 46,XX true hermaphrodite JOURNAL ARTICLE published January 1985 in Human Genetics |
Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat JOURNAL ARTICLE published August 1991 in Human Genetics |