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Richard C Trembath

Showing results (31-40 of 169) with videos related to

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The Journal of Investigative Dermatology|June 25, 2013
Loss of IL36RN function does not confer susceptibility to psoriasis vulgarisDorottya M Berki, Satveer K Mahil, A David Burden, et al.
Human Molecular Genetics|June 5, 2002
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertensionNung Rudarakanchana, Julia A Flanagan, Hailan Chen, et al.
Genes|November 14, 2020
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial HypertensionSimone M Gelinas, Clare E Benson, Mohammed A Khan, et al.
American Journal of Human Genetics|March 22, 2003
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and EDavid Johnson, Shih-Hsin Kan, Michael Oldridge, et al.
Circulation|February 3, 2005
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhoodRachel E Harrison, Rolf Berger, Sheila G Haworth, et al.
Molecular and Cellular Biology|May 2, 2006
SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeletonFarhana Haque, David J Lloyd, Dawn T Smallwood, et al.
Circulation Research|April 26, 2008
Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertensionJun Yang, Rachel J Davies, Mark Southwood, et al.
Circulation|February 9, 2005
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertensionRajiv D Machado, Victoria James, Mark Southwood, et al.
Molecular Vision|May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataractEsther Meyer, Fatimah Rahman, Jessica Owens, et al.
European Journal of Medical Genetics|November 13, 2012
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritanceDiana M Walsh, Stavit A Shalev, Michael A Simpson, et al.
Pageof 17

Showing results (31-40 of 169) with videos related to

Sort By:
Pageof 17
The Journal of Investigative Dermatology|June 25, 2013
Loss of IL36RN function does not confer susceptibility to psoriasis vulgarisDorottya M Berki, Satveer K Mahil, A David Burden, et al.
Human Molecular Genetics|June 5, 2002
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertensionNung Rudarakanchana, Julia A Flanagan, Hailan Chen, et al.
Genes|November 14, 2020
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial HypertensionSimone M Gelinas, Clare E Benson, Mohammed A Khan, et al.
American Journal of Human Genetics|March 22, 2003
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and EDavid Johnson, Shih-Hsin Kan, Michael Oldridge, et al.
Circulation|February 3, 2005
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhoodRachel E Harrison, Rolf Berger, Sheila G Haworth, et al.
Molecular and Cellular Biology|May 2, 2006
SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeletonFarhana Haque, David J Lloyd, Dawn T Smallwood, et al.
Circulation Research|April 26, 2008
Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertensionJun Yang, Rachel J Davies, Mark Southwood, et al.
Circulation|February 9, 2005
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertensionRajiv D Machado, Victoria James, Mark Southwood, et al.
Molecular Vision|May 23, 2009
Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataractEsther Meyer, Fatimah Rahman, Jessica Owens, et al.
European Journal of Medical Genetics|November 13, 2012
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritanceDiana M Walsh, Stavit A Shalev, Michael A Simpson, et al.
Pageof 17