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Human Genetics|January 1, 1992
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomesK Stephens, L Kayes, V M Riccardi, et al.
American Journal of Human Genetics|January 1, 1979
Abnormal skin fibroblast cytogenetics in four dysmorphic patients with normal lymphocyte chromosomesR A Pagon, J G Hall, S L Davenport, et al.
Human Molecular Genetics|July 1, 1993
Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XISTK A Leppig, C J Brown, S L Bressler, et al.
The Journal of Pediatrics|August 1, 1990
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and tracheaM Shohat, H E Gruber, R A Pagon, et al.
American Journal of Human Genetics|February 1, 1991
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13W H Raskind, E Wijsman, R A Pagon, et al.
Human Genetics|December 1, 1986
Molecular detection of a translocation (Y;15) in a 45,X maleC M Disteche, L Brown, H Saal, et al.
American Journal of Human Genetics|July 1, 1994
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1S W Scherer, P Poorkaj, T Allen, et al.
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