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A recombinant Friedreich's ataxia family JOURNAL ARTICLE published April 1993 in Human Genetics |
No evidence for linkage of long QT syndrome and chromosome 11p15.5 markers in a Chinese family: evidence for genetic heterogeneity JOURNAL ARTICLE published October 1994 in Human Genetics |
Transspecific variability of phosphohexose isomerase (E. C.: 5. 3. 1. 9) in primates JOURNAL ARTICLE published 1971 in Human Genetics |
Chromosomenmosaik 46,XY,D-,t(DqGq)+/92,XYXY,2D-,2t(DqGq)+ bei einem S�ugling mit Down-Syndrom JOURNAL ARTICLE published 1973 in Human Genetics |
AB0-Blutgruppen bei rheumatischem Fieber und rheumatischer Karditis JOURNAL ARTICLE published 1967 in Human Genetics |
The human microbiome and genetic disease: towards the integration of metagenomic and multi-omics data JOURNAL ARTICLE published May 2021 in Human Genetics |
Parental mean ages and birth order in different types of congenital heart defects JOURNAL ARTICLE published 1973 in Human Genetics |
PKU mutations R408Q and F299C in Norway: Haplotype associations, geographic distributions and phenotype characteristics JOURNAL ARTICLE published March 1992 in Human Genetics |
Genetic variation in the apolipoprotein H (β2-glycoprotein I) gene affects plasma apolipoprotein H concentrations JOURNAL ARTICLE published August 1999 in Human Genetics |
Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues JOURNAL ARTICLE published March 1985 in Human Genetics |
Human and rodent transformed cells are more sensitive to in vitro induction of SCE by N-methyl-N′-nitro-N-nitrosoguanidine (MNNG) than normal cells JOURNAL ARTICLE published March 1983 in Human Genetics |
Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis JOURNAL ARTICLE published 9 July 1997 in Human Genetics |
The woman who walked into the sea: Huntington’s and the making of a genetic disease JOURNAL ARTICLE published February 2009 in Human Genetics |
AB0 blood groups and the type of leprosy in an Indian population JOURNAL ARTICLE published 1966 in Human Genetics |
Human hepatocyte nuclear factor-4 (hHNF-4) gene maps to 20q12-q13.1 between PLCG1 and D20S17 JOURNAL ARTICLE published 27 January 1997 in Human Genetics |
Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome JOURNAL ARTICLE published February 1993 in Human Genetics |
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy JOURNAL ARTICLE published February 2019 in Human Genetics Research funded by Italian Ministry of Health (RF-2011-02350693) |
“Response to the letter to the editor “Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency”” JOURNAL ARTICLE published April 2021 in Human Genetics Research funded by National Key Research and Development Program of China (2017YFC1001100) |
Editorial to special issue on Ethics in Genetics JOURNAL ARTICLE published May 2022 in Human Genetics |
A novel coding exon of the human adenomatous polyposis coli gene JOURNAL ARTICLE published October 1995 in Human Genetics |