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Richard C Trembath

Showing results (11-20 of 169) with videos related to

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American Journal of Respiratory and Critical Care Medicine|July 21, 2007
Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertensionMicheala A Aldred, Rajiv D Machado, Victoria James, et al.
The Journal of Clinical Endocrinology and Metabolism|April 5, 2002
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndromeJulie P Taylor, Russell A Metcalfe, Philip F Watson, et al.
The Journal of Investigative Dermatology|October 26, 2012
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesisAndrew E Pink, Michael A Simpson, Nemesha Desai, et al.
Molecular Genetics and Metabolism|December 17, 2009
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionEsther Meyer, Manju A Kurian, Shanaz Pasha, et al.
The Journal of Investigative Dermatology|December 30, 2011
Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility geneAlexandros Onoufriadis, Michael A Simpson, A David Burden, et al.
Human Molecular Genetics|March 7, 2008
Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertensionM Talat Nasim, Amar Ghouri, Bhakti Patel, et al.
Human Mutation|February 1, 2011
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentCeline Denais, Carolyn L Dent, Laura Southgate, et al.
Human Genetics|September 1, 2004
Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testingMicheala A Aldred, Laura Baumber, Alison Hill, et al.
Molecular Vision|January 23, 2004
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)Carmel Toomes, Louise M Downey, Helen M Bottomley, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsSai Prasad, Karen A Kölln, Robert A Cucci, et al.
Pageof 17

Showing results (11-20 of 169) with videos related to

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Pageof 17
American Journal of Respiratory and Critical Care Medicine|July 21, 2007
Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertensionMicheala A Aldred, Rajiv D Machado, Victoria James, et al.
The Journal of Clinical Endocrinology and Metabolism|April 5, 2002
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndromeJulie P Taylor, Russell A Metcalfe, Philip F Watson, et al.
The Journal of Investigative Dermatology|October 26, 2012
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesisAndrew E Pink, Michael A Simpson, Nemesha Desai, et al.
Molecular Genetics and Metabolism|December 17, 2009
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorptionEsther Meyer, Manju A Kurian, Shanaz Pasha, et al.
The Journal of Investigative Dermatology|December 30, 2011
Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility geneAlexandros Onoufriadis, Michael A Simpson, A David Burden, et al.
Human Molecular Genetics|March 7, 2008
Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertensionM Talat Nasim, Amar Ghouri, Bhakti Patel, et al.
Human Mutation|February 1, 2011
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone developmentCeline Denais, Carolyn L Dent, Laura Southgate, et al.
Human Genetics|September 1, 2004
Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testingMicheala A Aldred, Laura Baumber, Alison Hill, et al.
Molecular Vision|January 23, 2004
Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)Carmel Toomes, Louise M Downey, Helen M Bottomley, et al.
American Journal of Medical Genetics. Part A|December 18, 2003
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsSai Prasad, Karen A Kölln, Robert A Cucci, et al.
Pageof 17