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Human genetics

Showing results (511-520 of 11,264) with videos related to

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Human Genetics|January 1, 1980
Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndromeJ M Cantú, J Sánchez-Corona, D García-Cruz, et al.
Human Genetics|November 1, 1996
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhoodH Kremer, B C Hamel, B van den Helm, et al.
Human Genetics|November 1, 1996
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variantJ R Lo ten Foe, M T Barel, P Thuss, et al.
Human Genetics|December 1, 1996
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndromeP Riva, P Castorina, S Manoukian, et al.
Human Genetics|December 1, 1996
Evidence of somatic mutations in osteoarthritisF Mertens, E Pålsson, A Lindstrand, et al.
Human Genetics|December 1, 1996
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patientsC Lázaro, A Gaona, P Ainsworth, et al.
Human Genetics|December 1, 1996
Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfismS Raskin, J D Cogan, M L Summar, et al.
Human Genetics|December 1, 1996
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coliR B van der Luijt, P Meera Khan, H F Vasen, et al.
Human Genetics|December 1, 1996
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?R Kruse, C Lamberti, Y Wang, et al.
Human Genetics|November 1, 1996
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French familyA Meyer, A Béchetoille, F Valtot, et al.
Pageof 1,127

Showing results (511-520 of 11,264) with videos related to

Sort By:
Pageof 1,127
Human Genetics|January 1, 1980
Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndromeJ M Cantú, J Sánchez-Corona, D García-Cruz, et al.
Human Genetics|November 1, 1996
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhoodH Kremer, B C Hamel, B van den Helm, et al.
Human Genetics|November 1, 1996
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variantJ R Lo ten Foe, M T Barel, P Thuss, et al.
Human Genetics|December 1, 1996
Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndromeP Riva, P Castorina, S Manoukian, et al.
Human Genetics|December 1, 1996
Evidence of somatic mutations in osteoarthritisF Mertens, E Pålsson, A Lindstrand, et al.
Human Genetics|December 1, 1996
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patientsC Lázaro, A Gaona, P Ainsworth, et al.
Human Genetics|December 1, 1996
Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfismS Raskin, J D Cogan, M L Summar, et al.
Human Genetics|December 1, 1996
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coliR B van der Luijt, P Meera Khan, H F Vasen, et al.
Human Genetics|December 1, 1996
Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?R Kruse, C Lamberti, Y Wang, et al.
Human Genetics|November 1, 1996
Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French familyA Meyer, A Béchetoille, F Valtot, et al.
Pageof 1,127