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A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency JOURNAL ARTICLE published November 1995 in Human Genetics |
Beitrag zur Populationsgenetik der Pyruvatkinase menschlicher Erythrocyten JOURNAL ARTICLE published 1968 in Human Genetics |
Mapping the human ZFX locus to Xp21.3 by in situ hybridization JOURNAL ARTICLE published April 1989 in Human Genetics |
?-Aminolevulinate dehydratase: Induced expression and regional assignment of the human gene to chromosome 9q13�qter JOURNAL ARTICLE published May 1985 in Human Genetics |
Chromosome 17 has a real fragile site at p12 JOURNAL ARTICLE published September 1982 in Human Genetics |
Phenylketonuria in Spain: RFLP haplotypes and linked mutations JOURNAL ARTICLE published 1993 in Human Genetics |
A newXmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene JOURNAL ARTICLE published May 1996 in Human Genetics |
Nucleolus organiser regions on mitotic and meiotic chromosomes from infertile males investigated using a specific silver stain JOURNAL ARTICLE published 1979 in Human Genetics |
Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR JOURNAL ARTICLE published 9 April 1999 in Human Genetics |
Obesity-related genetic variants, human pigmentation, and risk of melanoma JOURNAL ARTICLE published July 2013 in Human Genetics |
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy JOURNAL ARTICLE published 29 March 1996 in Human Genetics |
Cytogenetic investigation of six patients with X isochromosomes, i(Xq), and of two subjects with isodicentric X chromosomes, idic(Xq) JOURNAL ARTICLE published October 1981 in Human Genetics |
Human chromosomes and fluorescence JOURNAL ARTICLE published 1971 in Human Genetics |
A 4p- syndrome JOURNAL ARTICLE published 1973 in Human Genetics |
Zur klinischen Differentialdiagnose des Cri du Chat-Syndroms JOURNAL ARTICLE published 1967 in Human Genetics |
Partial trisomy for the short arm of chromosome 2 due to familial balanced translocation JOURNAL ARTICLE published 1978 in Human Genetics |
An attempt to establish trisomy 8 syndrome JOURNAL ARTICLE published 1973 in Human Genetics |
A simplified method of demonstrating Giemsa-Band pattern in human chromosomes JOURNAL ARTICLE published 1971 in Human Genetics |
Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G in den Lymphocyten des peripheren Blutes JOURNAL ARTICLE published 1968 in Human Genetics |
Beurteilung des diagnostischen Wertes der finger- und Handleistenmerkmale von Mongoloiden unter Anwendung einer Diskriminanzanalyse JOURNAL ARTICLE published 1969 in Human Genetics |