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David L Rimoin

Showing results (61-70 of 78) with videos related to

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Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.
The Journal of Pharmacology and Experimental Therapeutics|February 5, 2015
Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfismDaniel J Wendt, Melita Dvorak-Ewell, Sherry Bullens, et al.
American Journal of Human Genetics|November 5, 2013
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in ciliaCéline Huber, Sulin Wu, Ashley S Kim, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped PhalangesDeborah Krakow, Daniel H Cohn, William R Wilcox, et al.
Nature Medicine|October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and humanShuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Nature Reviews. Genetics|October 26, 2011
Mutation (variation) databases and registries: a rationale for coordination of effortsArleen D Auerbach, John Burn, Jean-Jacques Cassiman, et al.
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.
American Journal of Medical Genetics|April 27, 2002
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova SyndromeAlison M Elliott, Marie Gonzales, Jean-Claude Hoeffel, et al.
Pageof 8

Showing results (61-70 of 78) with videos related to

Sort By:
Pageof 8
Journal of Medical Genetics|April 3, 2007
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeGen Nishimura, Eiji Nakashima, Yuichiro Hirose, et al.
The Journal of Pharmacology and Experimental Therapeutics|February 5, 2015
Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfismDaniel J Wendt, Melita Dvorak-Ewell, Sherry Bullens, et al.
American Journal of Human Genetics|November 5, 2013
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in ciliaCéline Huber, Sulin Wu, Ashley S Kim, et al.
American Journal of Medical Genetics. Part A|March 26, 2011
Nosology and classification of genetic skeletal disorders: 2010 revisionMatthew L Warman, Valerie Cormier-Daire, Christine Hall, et al.
American Journal of Medical Genetics. Part A|June 1, 2016
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped PhalangesDeborah Krakow, Daniel H Cohn, William R Wilcox, et al.
Nature Medicine|October 24, 2007
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and humanShuichi Hiraoka, Tatsuya Furuichi, Gen Nishimura, et al.
Nature Reviews. Genetics|October 26, 2011
Mutation (variation) databases and registries: a rationale for coordination of effortsArleen D Auerbach, John Burn, Jean-Jacques Cassiman, et al.
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.
American Journal of Medical Genetics|April 27, 2002
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova SyndromeAlison M Elliott, Marie Gonzales, Jean-Claude Hoeffel, et al.
Pageof 8