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Human Genetics|July 1, 1995
Mutations in three subdomains of the carboxy-terminal region of collagen type X account for most of the Schmid metaphyseal dysplasiasJ Bonaventure, F Chaminade, P MaroteauxHuman Genetics|July 1, 1995
A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous diseaseT Ariga, Y Sakiyama, S MatsumotoHuman Genetics|July 1, 1995
Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutationA F van Lieburg, M A Verdijk, F Schoute, et al.Human Genetics|July 1, 1995
Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literatureS Demczuk, A Lévy, M Aubry, et al.Human Genetics|July 1, 1995
Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 geneP N Robinson, A Böddrich, H Peters, et al.Human Genetics|July 1, 1995
Human glutamine: fructose-6-phosphate amidotransferase: characterization of mRNA and chromosomal assignment to 2p13J Zhou, J L Neidigh, R Espinosa, et al.Human Genetics|July 18, 1979
G-banding patterns of high-resolution human chromosomes 6--22, X, and YJ J Yunis, D W Ball, J R SawyerHuman Genetics|February 28, 1979
The electroencephalogram (EEG) as a research tool in human behavior genetics: psychological examinations in healthy males with various inherited EEG variants. I. Rationale of the study. Material. Methods. Heritability of test parametersF Vogel, E Schalt, J Krüger, et al.Human Genetics|December 18, 1978
Mitotic chiasmata in human diplochromosomesE Therman, C Denniston, G E SartoHuman Genetics|May 23, 1979
Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchangeH J Evans, K E Buckton, G Spowart, et al.Pageof 959