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Han G Brunner

Showing results (171-180 of 318) with videos related to

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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.
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.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Nature Genetics|December 23, 2008
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, et al.
Pageof 32

Showing results (171-180 of 318) with videos related to

Sort By:
Pageof 32
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.
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.
The New England Journal of Medicine|October 5, 2012
Diagnostic exome sequencing in persons with severe intellectual disabilityJoep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, et al.
European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.
American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.
Nature Genetics|February 28, 2006
Mutations in different components of FGF signaling in LADD syndromeEdyta Rohmann, Han G Brunner, Hülya Kayserili, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.
Nature Genetics|December 23, 2008
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1Marjolijn J L Ligtenberg, Roland P Kuiper, Tsun Leung Chan, et al.
Pageof 32