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Daniel H Cohn

Showing results (61-70 of 81) with videos related to

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American Journal of Human Genetics|April 14, 2009
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndromeAmy E Merrill, Barry Merriman, Claire Farrington-Rock, et al.
American Journal of Human Genetics|February 24, 2009
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaDeborah Krakow, Joris Vriens, Natalia Camacho, et al.
The Journal of Clinical Investigation|March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasiaAdetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.
Human Molecular Genetics|July 29, 2016
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndromeS Paige Taylor, Michaela Kunova Bosakova, Miroslav Varecha, et al.
Nature Genetics|July 1, 2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew J Rock, Jean Prenen, Vincent A Funari, et al.
Journal of Human Genetics|July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type IIZheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, et al.
The New England Journal of Medicine|January 22, 2010
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210Patrick Smits, Andrew D Bolton, Vincent Funari, et al.
American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.
Pageof 9

Showing results (61-70 of 81) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|April 14, 2009
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndromeAmy E Merrill, Barry Merriman, Claire Farrington-Rock, et al.
American Journal of Human Genetics|February 24, 2009
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasiaDeborah Krakow, Joris Vriens, Natalia Camacho, et al.
The Journal of Clinical Investigation|March 7, 2017
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasiaAdetutu T Egunsola, Yangjin Bae, Ming-Ming Jiang, et al.
Human Molecular Genetics|July 29, 2016
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndromeS Paige Taylor, Michaela Kunova Bosakova, Miroslav Varecha, et al.
Nature Genetics|July 1, 2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew J Rock, Jean Prenen, Vincent A Funari, et al.
Journal of Human Genetics|July 16, 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type IIZheng Wang, Mitsuhiro Kometani, Leonid Zeitlin, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, et al.
The New England Journal of Medicine|January 22, 2010
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210Patrick Smits, Andrew D Bolton, Vincent Funari, et al.
American Journal of Medical Genetics. Part A|February 13, 2023
Nosology of genetic skeletal disorders: 2023 revisionSheila Unger, Carlos R Ferreira, Geert R Mortier, et al.
Pageof 9