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Daniel H Cohn

Showing results (41-50 of 81) with videos related to

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FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 1, 2014
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformationsHolly A Leddy, Amy L McNulty, Suk Hee Lee, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1Karthika Balasubramanian, Bing Li, Deborah Krakow, et al.
Science Translational Medicine|September 21, 2018
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signalingFabiana Csukasi, Ivan Duran, Maya Barad, et al.
Cilia|April 13, 2017
Mutations in IFT-A satellite core component genes <i>IFT43</i> and <i>IFT121</i> produce short rib polydactyly syndrome with distinctive campomeliaIvan Duran, S Paige Taylor, Wenjuan Zhang, et al.
American Journal of Medical Genetics|July 19, 2002
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaMuhammad Faiyaz-Ul-Haque, Wasim Ahmad, Abdul Wahab, et al.
American Journal of Medical Genetics. Part A|August 13, 2005
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and SpainRobert Pogue, Nadia Ehtesham, Gabriela M Repetto, et al.
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.
JCI Insight|January 23, 2026
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant miceLisette Nevarez, Taylor K Ismaili, Jennifer Zieba, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 8, 2022
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis ImperfectaIvan Duran, Jennifer Zieba, Fabiana Csukasi, et al.
Pageof 9

Showing results (41-50 of 81) with videos related to

Sort By:
Pageof 9
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 1, 2014
Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformationsHolly A Leddy, Amy L McNulty, Suk Hee Lee, et al.
American Journal of Medical Genetics. Part A|July 26, 2017
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1Karthika Balasubramanian, Bing Li, Deborah Krakow, et al.
Science Translational Medicine|September 21, 2018
The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signalingFabiana Csukasi, Ivan Duran, Maya Barad, et al.
Cilia|April 13, 2017
Mutations in IFT-A satellite core component genes <i>IFT43</i> and <i>IFT121</i> produce short rib polydactyly syndrome with distinctive campomeliaIvan Duran, S Paige Taylor, Wenjuan Zhang, et al.
American Journal of Medical Genetics|July 19, 2002
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasiaMuhammad Faiyaz-Ul-Haque, Wasim Ahmad, Abdul Wahab, et al.
American Journal of Medical Genetics. Part A|August 13, 2005
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and SpainRobert Pogue, Nadia Ehtesham, Gabriela M Repetto, et al.
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.
JCI Insight|January 23, 2026
Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant miceLisette Nevarez, Taylor K Ismaili, Jennifer Zieba, et al.
American Journal of Medical Genetics. Part A|October 22, 2019
Nosology and classification of genetic skeletal disorders: 2019 revisionGeert R Mortier, Daniel H Cohn, Valerie Cormier-Daire, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|January 8, 2022
4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis ImperfectaIvan Duran, Jennifer Zieba, Fabiana Csukasi, et al.
Pageof 9