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Peter Nürnberg

Showing results (101-110 of 517) with videos related to

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Molecular Syndromology|April 8, 2020
A Novel Mutation in <i>PIGA</i> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival HyperplasiaChristiane M Neuhofer, Rudolf Funke, Bernd Wilken, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|December 19, 2015
Whole-Exome Sequencing in Nine Monozygotic Discordant TwinsRong Zhang, Holger Thiele, Peter Bartmann, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutationKatharina A Wycisk, Birgit Budde, Silke Feil, et al.
Molecular Vision|August 19, 2011
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataractsAdeel Ahmad, Shakeela Daud, Naseebullah Kakar, et al.
Pediatric Nephrology (Berlin, Germany)|May 25, 2005
Gene locus ambiguity in posterior urethral valves/prune-belly syndromeStefanie Weber, Sevgi Mir, Karl Peter Schlingmann, et al.
Human Heredity|June 14, 2006
Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populationsAnja Bauerfeind, Hans Knoblauch, Michael C Costanza, et al.
Journal of Human Genetics|December 16, 2016
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsGoknur Haliloglu, Kerstin Becker, Cagri Temucin, et al.
American Journal of Respiratory and Critical Care Medicine|January 11, 2005
Genomewide linkage analysis identifies novel genetic Loci for lung function in miceClaudia Reinhard, Birgit Meyer, Helmut Fuchs, et al.
Human Genetics|April 24, 2010
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophySibel Ugur Iseri, Alexander W Wyatt, Gudrun Nürnberg, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotypeOliver Puk, Jana Löster, Claudia Dalke, et al.
Pageof 52

Showing results (101-110 of 517) with videos related to

Sort By:
Pageof 52
Molecular Syndromology|April 8, 2020
A Novel Mutation in <i>PIGA</i> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival HyperplasiaChristiane M Neuhofer, Rudolf Funke, Bernd Wilken, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|December 19, 2015
Whole-Exome Sequencing in Nine Monozygotic Discordant TwinsRong Zhang, Holger Thiele, Peter Bartmann, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutationKatharina A Wycisk, Birgit Budde, Silke Feil, et al.
Molecular Vision|August 19, 2011
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataractsAdeel Ahmad, Shakeela Daud, Naseebullah Kakar, et al.
Pediatric Nephrology (Berlin, Germany)|May 25, 2005
Gene locus ambiguity in posterior urethral valves/prune-belly syndromeStefanie Weber, Sevgi Mir, Karl Peter Schlingmann, et al.
Human Heredity|June 14, 2006
Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populationsAnja Bauerfeind, Hans Knoblauch, Michael C Costanza, et al.
Journal of Human Genetics|December 16, 2016
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defectsGoknur Haliloglu, Kerstin Becker, Cagri Temucin, et al.
American Journal of Respiratory and Critical Care Medicine|January 11, 2005
Genomewide linkage analysis identifies novel genetic Loci for lung function in miceClaudia Reinhard, Birgit Meyer, Helmut Fuchs, et al.
Human Genetics|April 24, 2010
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophySibel Ugur Iseri, Alexander W Wyatt, Gudrun Nürnberg, et al.
Investigative Ophthalmology & Visual Science|April 4, 2008
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotypeOliver Puk, Jana Löster, Claudia Dalke, et al.
Pageof 52