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Human Heredity|December 22, 1998
A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathyA De Luca, I Torrente, M Mangino, et al.
Human Genetics|September 1, 1990
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF familiesG Novelli, P Gasparini, A Savoia, et al.
Journal of Human Genetics|February 4, 1999
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) geneM Mangino, I Torrente, A De Luca, et al.
Clinical Genetics|September 1, 1994
Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotypeM C Digilio, R Mingarelli, B Marino, et al.
Cancer Genetics and Cytogenetics|November 1, 1988
Tetraploidy (92,XXYY) in an acute nonlymphocytic leukemia (M1) patient following autologous bone marrow transplantationL Zelante, G Perla, C Bodenizza, et al.
American Journal of Medical Genetics|August 1, 1989
CFC syndrome: report on three additional casesG Sorge, F Di Forti, G Scarano, et al.
Giornale Italiano Di Medicina Del Lavoro|May 1, 1986
[Fanconi's anemia: in vitro tests for the individualization of heterozygotes]A Farulla, E Monaco, C R Corrao, et al.
Gynecologic Oncology|July 1, 1992
The prevalence of HPV16DNA in normal and pathological cervical scrapes using the polymerase chain reactionN Pasetto, F Sesti, L De Santis, et al.
Human Heredity|January 1, 1984
Regional mapping of hexokinase-1 within the short arm of chromosome 10B Dallapiccola, G Novelli, G Micara, et al.
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