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G Brunner

Showing results (551-560 of 727) with videos related to

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Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
JACC. Cardiovascular Imaging|June 17, 2019
Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated CardiomyopathyJob A J Verdonschot, Jort J Merken, Hans-Peter Brunner-La Rocca, et al.
European Heart Journal|November 6, 2020
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differencesJob A J Verdonschot, Marco Merlo, Fernando Dominguez, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
European Journal of Human Genetics : EJHG|July 14, 2016
Rare novel variants in the ZIC3 gene cause X-linked heterotaxyAimee D C Paulussen, Anja Steyls, Jo Vanoevelen, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variantsArijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri, et al.
European Journal of Heart Failure|April 30, 2021
The combination of carboxy-terminal propeptide of procollagen type I blood levels and late gadolinium enhancement at cardiac magnetic resonance provides additional prognostic information in idiopathic dilated cardiomyopathy - A multilevel assessment of myocardial fibrosis in dilated cardiomyopathyAnne G Raafs, Job A J Verdonschot, Michiel T H M Henkens, et al.
Science Translational Medicine|September 18, 2015
Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infectionAdam L Bailey, Michael Lauck, Mariel Mohns, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 21, 2014
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformationsCharlotte H W Wijers, Ivo de Blaauw, Nadine Zwink, et al.
Pageof 73

Showing results (551-560 of 727) with videos related to

Sort By:
Pageof 73
Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
JACC. Cardiovascular Imaging|June 17, 2019
Value of Speckle Tracking-Based Deformation Analysis in Screening Relatives of Patients With Asymptomatic Dilated CardiomyopathyJob A J Verdonschot, Jort J Merken, Hans-Peter Brunner-La Rocca, et al.
European Heart Journal|November 6, 2020
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differencesJob A J Verdonschot, Marco Merlo, Fernando Dominguez, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
European Journal of Human Genetics : EJHG|July 14, 2016
Rare novel variants in the ZIC3 gene cause X-linked heterotaxyAimee D C Paulussen, Anja Steyls, Jo Vanoevelen, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variantsArijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri, et al.
European Journal of Heart Failure|April 30, 2021
The combination of carboxy-terminal propeptide of procollagen type I blood levels and late gadolinium enhancement at cardiac magnetic resonance provides additional prognostic information in idiopathic dilated cardiomyopathy - A multilevel assessment of myocardial fibrosis in dilated cardiomyopathyAnne G Raafs, Job A J Verdonschot, Michiel T H M Henkens, et al.
Science Translational Medicine|September 18, 2015
Durable sequence stability and bone marrow tropism in a macaque model of human pegivirus infectionAdam L Bailey, Michael Lauck, Mariel Mohns, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 21, 2014
No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformationsCharlotte H W Wijers, Ivo de Blaauw, Nadine Zwink, et al.
Pageof 73