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Daniel H Cohn

Showing results (21-30 of 81) with videos related to

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BMC Genomics|January 2, 2010
Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencingHane Lee, Brian D O'Connor, Barry Merriman, et al.
Human Molecular Genetics|July 29, 2016
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeWenjuan Zhang, S Paige Taylor, Lisette Nevarez, et al.
Human Molecular Genetics|July 20, 2007
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndromeClaire Farrington-Rock, Veneta Kirilova, Lisa Dillard-Telm, et al.
Human Molecular Genetics|December 17, 2014
HSP47 and FKBP65 cooperate in the synthesis of type I procollagenIvan Duran, Lisette Nevarez, Anna Sarukhanov, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasiaNatalia Camacho, Deborah Krakow, Sharlin Johnykutty, et al.
Bone Research|April 27, 2022
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse modelJennifer Zieba, Kimberly N Forlenza, Kelly Heard, et al.
American Journal of Medical Genetics. Part A|June 24, 2014
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1Bing Li, Deborah Krakow, Deborah A Nickerson, et al.
American Journal of Human Genetics|August 6, 2002
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12Nadia Ehtesham, Rita M Cantor, Lily M King, et al.
Stem Cells and Development|February 25, 2014
Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1Biagio Saitta, Jenna Passarini, Dhruv Sareen, et al.
Human Mutation|August 8, 2019
Dominant-negative SOX9 mutations in campomelic dysplasiaFabiana Csukasi, Ivan Duran, Wenjuan Zhang, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
BMC Genomics|January 2, 2010
Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencingHane Lee, Brian D O'Connor, Barry Merriman, et al.
Human Molecular Genetics|July 29, 2016
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeWenjuan Zhang, S Paige Taylor, Lisette Nevarez, et al.
Human Molecular Genetics|July 20, 2007
Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndromeClaire Farrington-Rock, Veneta Kirilova, Lisa Dillard-Telm, et al.
Human Molecular Genetics|December 17, 2014
HSP47 and FKBP65 cooperate in the synthesis of type I procollagenIvan Duran, Lisette Nevarez, Anna Sarukhanov, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasiaNatalia Camacho, Deborah Krakow, Sharlin Johnykutty, et al.
Bone Research|April 27, 2022
Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse modelJennifer Zieba, Kimberly N Forlenza, Kelly Heard, et al.
American Journal of Medical Genetics. Part A|June 24, 2014
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1Bing Li, Deborah Krakow, Deborah A Nickerson, et al.
American Journal of Human Genetics|August 6, 2002
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12Nadia Ehtesham, Rita M Cantor, Lily M King, et al.
Stem Cells and Development|February 25, 2014
Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1Biagio Saitta, Jenna Passarini, Dhruv Sareen, et al.
Human Mutation|August 8, 2019
Dominant-negative SOX9 mutations in campomelic dysplasiaFabiana Csukasi, Ivan Duran, Wenjuan Zhang, et al.
Pageof 9