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Christian Windpassinger

Showing results (21-30 of 69) with videos related to

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Clinical Research in Cardiology : Official Journal of the German Cardiac Society|July 3, 2019
Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC studyAnna-Isabelle Kälsch, Hubert Scharnagl, Marcus E Kleber, et al.
Journal of Genetics|July 5, 2017
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM geneMuzammil Ahmad Khan, Christian Windpassinger, Muhammad Zeeshan Ali, et al.
American Journal of Human Genetics|April 7, 2009
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3Abdul Noor, Christian Windpassinger, Irina Vitcu, et al.
Developmental Neurorehabilitation|October 4, 2013
Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal developmentPeter B Marschik, Katrin D Bartl-Pokorny, Helen Tager-Flusberg, et al.
Molecular Genetics & Genomic Medicine|July 12, 2019
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 geneMuhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, et al.
Plos One|November 5, 2011
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5)Ivana Poparic, Wolfgang Schreibmayer, Benedikt Schoser, et al.
Circulation. Cardiovascular Genetics|March 3, 2016
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathYuan Xue, Benedikt Schoser, Aliz R Rao, et al.
Genomics|October 23, 2004
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologueThomas Schwarzbraun, John B Vincent, Axel Schumacher, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Scientific Reports|February 11, 2015
Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell lineChouyang Li, Simin Rezania, Sarah Kammerer, et al.
Pageof 7

Showing results (21-30 of 69) with videos related to

Sort By:
Pageof 7
Clinical Research in Cardiology : Official Journal of the German Cardiac Society|July 3, 2019
Long- and short-term association of low-grade systemic inflammation with cardiovascular mortality in the LURIC studyAnna-Isabelle Kälsch, Hubert Scharnagl, Marcus E Kleber, et al.
Journal of Genetics|July 5, 2017
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM geneMuzammil Ahmad Khan, Christian Windpassinger, Muhammad Zeeshan Ali, et al.
American Journal of Human Genetics|April 7, 2009
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3Abdul Noor, Christian Windpassinger, Irina Vitcu, et al.
Developmental Neurorehabilitation|October 4, 2013
Three different profiles: early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal developmentPeter B Marschik, Katrin D Bartl-Pokorny, Helen Tager-Flusberg, et al.
Molecular Genetics & Genomic Medicine|July 12, 2019
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 geneMuhammad Muzammal, Muhammad Zubair, Sophie Bierbaumer, et al.
Plos One|November 5, 2011
Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5)Ivana Poparic, Wolfgang Schreibmayer, Benedikt Schoser, et al.
Circulation. Cardiovascular Genetics|March 3, 2016
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac DeathYuan Xue, Benedikt Schoser, Aliz R Rao, et al.
Genomics|October 23, 2004
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologueThomas Schwarzbraun, John B Vincent, Axel Schumacher, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Scientific Reports|February 11, 2015
Piezo1 forms mechanosensitive ion channels in the human MCF-7 breast cancer cell lineChouyang Li, Simin Rezania, Sarah Kammerer, et al.
Pageof 7