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David L Rimoin

Showing results (71-80 of 78) with videos related to

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Nature Genetics|July 1, 2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew J Rock, Jean Prenen, Vincent A Funari, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, 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.
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.
American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
Pageof 8

Showing results (71-80 of 78) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 78 results.
Nature Genetics|July 1, 2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmiaMatthew J Rock, Jean Prenen, Vincent A Funari, et al.
Human Mutation|June 6, 2006
Mutations in two regions of FLNB result in atelosteogenesis I and IIIClaire Farrington-Rock, Marc H Firestein, Louise S Bicknell, et al.
Human Mutation|June 21, 2008
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfectaDustin Baldridge, Ulrike Schwarze, Roy Morello, et al.
European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, 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.
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.
American Journal of Human Genetics|June 21, 2011
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine Le Goff, Clémentine Mahaut, Lauren W Wang, et al.
Pageof 8