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Daniel H Cohn

Showing results (71-80 of 81) with videos related to

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EMBO Molecular Medicine|November 17, 2020
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signalingMichaela Bosakova, Sara P Abraham, Alexandru Nita, et al.
American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
The New England Journal of Medicine|May 10, 2013
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfectaChristine M Laine, Kyu Sang Joeng, Philippe M Campeau, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Human Mutation|November 2, 2006
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycansJoan C Marini, Antonella Forlino, Wayne A Cabral, et al.
American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
Nature Genetics|May 10, 2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Nature Genetics|July 28, 2016
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Pageof 9

Showing results (71-80 of 81) with videos related to

Sort By:
Pageof 9
EMBO Molecular Medicine|November 17, 2020
Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signalingMichaela Bosakova, Sara P Abraham, Alexandru Nita, et al.
American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
The New England Journal of Medicine|May 10, 2013
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfectaChristine M Laine, Kyu Sang Joeng, Philippe M Campeau, et al.
Nature Genetics|March 3, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisDeborah Krakow, Stephen P Robertson, Lily M King, et al.
Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.
Human Mutation|November 2, 2006
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycansJoan C Marini, Antonella Forlino, Wayne A Cabral, et al.
American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.
Nature Genetics|May 10, 2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Nature Genetics|July 28, 2016
Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machineryMichinori Toriyama, Chanjae Lee, S Paige Taylor, et al.
Pageof 9