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Daniel H Cohn

Showing results (31-40 of 81) with videos related to

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Nature Communications|June 17, 2015
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeS Paige Taylor, Tiago J Dantas, Ivan Duran, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosisHane Lee, John M Graham, David L Rimoin, et al.
Plos Genetics|March 29, 2016
TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral FusionsJennifer Zieba, Kimberly Nicole Forlenza, Jagteshwar Singh Khatra, et al.
Scientific Reports|September 27, 2016
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly SyndromeIvan Duran, S Paige Taylor, Wenjuan Zhang, et al.
Journal of Medical Genetics|December 17, 2015
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutationsKimberly A Aldinger, Nancy J Mendelsohn, Brian Hy Chung, et al.
American Journal of Medical Genetics. Part A|June 5, 2019
The α2 chain of type IX collagen is essential for type IX collagen biosynthesisKarthika Balasubramanian, MaryAnn Weis, David R Eyre, et al.
American Journal of Human Genetics|September 28, 2010
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencingVincent A Funari, Deborah Krakow, Lisette Nevarez, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2Stuart W Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 9, 2017
A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I ProcollagenIvan Duran, Jorge H Martin, Mary Ann Weis, et al.
American Journal of Human Genetics|December 27, 2008
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecanStuart W Tompson, Barry Merriman, Vincent A Funari, et al.
Pageof 9

Showing results (31-40 of 81) with videos related to

Sort By:
Pageof 9
Nature Communications|June 17, 2015
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeS Paige Taylor, Tiago J Dantas, Ivan Duran, et al.
American Journal of Human Genetics|April 3, 2012
Exome sequencing identifies PDE4D mutations in acrodysostosisHane Lee, John M Graham, David L Rimoin, et al.
Plos Genetics|March 29, 2016
TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral FusionsJennifer Zieba, Kimberly Nicole Forlenza, Jagteshwar Singh Khatra, et al.
Scientific Reports|September 27, 2016
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly SyndromeIvan Duran, S Paige Taylor, Wenjuan Zhang, et al.
Journal of Medical Genetics|December 17, 2015
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutationsKimberly A Aldinger, Nancy J Mendelsohn, Brian Hy Chung, et al.
American Journal of Medical Genetics. Part A|June 5, 2019
The α2 chain of type IX collagen is essential for type IX collagen biosynthesisKarthika Balasubramanian, MaryAnn Weis, David R Eyre, et al.
American Journal of Human Genetics|September 28, 2010
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencingVincent A Funari, Deborah Krakow, Lisette Nevarez, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2Stuart W Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 9, 2017
A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I ProcollagenIvan Duran, Jorge H Martin, Mary Ann Weis, et al.
American Journal of Human Genetics|December 27, 2008
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecanStuart W Tompson, Barry Merriman, Vincent A Funari, et al.
Pageof 9