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C A Francomano

Showing results (51-60 of 101) with videos related to

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Human Molecular Genetics|June 22, 2000
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryosT Iwata, L Chen, C Li, et al.
Genomics|April 1, 1994
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish familiesT Sulisalo, C A Francomano, P Sistonen, et al.
American Journal of Medical Genetics|September 13, 2000
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codonsD J Wilkin, R Liberfarb, J Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2001
A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndromeP S Rose, H P Levy, N U Ahn, et al.
The Journal of Pediatrics|January 1, 1988
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuriaD W Bartholomew, M L Batshaw, R H Allen, et al.
Genomics|December 1, 1987
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagenC A Francomano, R M Liberfarb, T Hirose, et al.
Human Molecular Genetics|June 1, 1994
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindredL D Piersall, H C Dietz, B D Hall, et al.
Pathology and Immunopathology Research|January 1, 1988
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagenC A Francomano, R M Liberfarb, T Hirose, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 29, 1999
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for agingZ Vajo, L M King, T Jonassen, et al.
Human Genetics|June 1, 1991
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21qC A Francomano, G R Cutting, M K McCormick, et al.
Pageof 11

Showing results (51-60 of 101) with videos related to

Sort By:
Pageof 11
Human Molecular Genetics|June 22, 2000
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryosT Iwata, L Chen, C Li, et al.
Genomics|April 1, 1994
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish familiesT Sulisalo, C A Francomano, P Sistonen, et al.
American Journal of Medical Genetics|September 13, 2000
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codonsD J Wilkin, R Liberfarb, J Davis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 12, 2001
A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndromeP S Rose, H P Levy, N U Ahn, et al.
The Journal of Pediatrics|January 1, 1988
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuriaD W Bartholomew, M L Batshaw, R H Allen, et al.
Genomics|December 1, 1987
The Stickler syndrome: evidence for close linkage to the structural gene for type II collagenC A Francomano, R M Liberfarb, T Hirose, et al.
Human Molecular Genetics|June 1, 1994
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindredL D Piersall, H C Dietz, B D Hall, et al.
Pathology and Immunopathology Research|January 1, 1988
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagenC A Francomano, R M Liberfarb, T Hirose, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 29, 1999
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for agingZ Vajo, L M King, T Jonassen, et al.
Human Genetics|June 1, 1991
The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21qC A Francomano, G R Cutting, M K McCormick, et al.
Pageof 11