Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

R C Trembath

Showing results (31-40 of 86) with videos related to

Pageof 9
Sort By:
Journal of Medical Genetics|November 1, 1994
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophyL C Wilson, M E Oude Luttikhuis, P T Clayton, et al.
Journal of Medical Genetics|May 3, 2005
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidismL Baumber, C Tufarelli, S Patel, et al.
Journal of Medical Genetics|January 1, 1997
Maternal uniparental disomy 7 in Silver-Russell syndromeM A Preece, S M Price, V Davies, et al.
Chest|December 24, 2005
Does BMPR2 mutation disrupt pulmonary vasculogenesis?Trina K Jeffery, Paul D Upton, X Yang, et al.
Human Molecular Genetics|December 1, 1996
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutationR J Scott, N J Froggatt, R C Trembath, et al.
Journal of Medical Genetics|June 7, 2005
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotypeS Shackleton, D T Smallwood, P Clayton, et al.
Neurology|June 28, 2006
A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohortL Baumber, C Sjöstrand, M Leone, et al.
Human Molecular Genetics|February 28, 2019
BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertensionH M Chowdhury, N Sharmin, Merve Yuzbasioglu Baran, et al.
Circulation|August 15, 2001
Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteinsN W Morrell, X Yang, P D Upton, et al.
Genes and Immunity|July 10, 2009
Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetesM Quaranta, A D Burden, C E M Griffiths, et al.
Pageof 9

Showing results (31-40 of 86) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|November 1, 1994
Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophyL C Wilson, M E Oude Luttikhuis, P T Clayton, et al.
Journal of Medical Genetics|May 3, 2005
Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidismL Baumber, C Tufarelli, S Patel, et al.
Journal of Medical Genetics|January 1, 1997
Maternal uniparental disomy 7 in Silver-Russell syndromeM A Preece, S M Price, V Davies, et al.
Chest|December 24, 2005
Does BMPR2 mutation disrupt pulmonary vasculogenesis?Trina K Jeffery, Paul D Upton, X Yang, et al.
Human Molecular Genetics|December 1, 1996
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutationR J Scott, N J Froggatt, R C Trembath, et al.
Journal of Medical Genetics|June 7, 2005
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotypeS Shackleton, D T Smallwood, P Clayton, et al.
Neurology|June 28, 2006
A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohortL Baumber, C Sjöstrand, M Leone, et al.
Human Molecular Genetics|February 28, 2019
BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertensionH M Chowdhury, N Sharmin, Merve Yuzbasioglu Baran, et al.
Circulation|August 15, 2001
Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteinsN W Morrell, X Yang, P D Upton, et al.
Genes and Immunity|July 10, 2009
Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetesM Quaranta, A D Burden, C E M Griffiths, et al.
Pageof 9