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Simone Schaich

Showing results (1-10 of 7) with videos related to

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Human Genetics|December 3, 2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 geneSimone Schimpf, Simone Schaich, Bernd Wissinger
Human Mutation|August 28, 2007
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codonsSimone Schimpf, Nico Fuhrmann, Simone Schaich, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
Genes and mutations in autosomal dominant cone and cone-rod dystrophySusanne Kohl, Veronique Kitiratschky, Monika Papke, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophiesVeronique B D Kitiratschky, Tanja Grau, Antje Bernd, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Human Genetics|December 3, 2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 geneSimone Schimpf, Simone Schaich, Bernd Wissinger
Human Mutation|August 28, 2007
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codonsSimone Schimpf, Nico Fuhrmann, Simone Schaich, et al.
Advances in Experimental Medicine and Biology|December 21, 2011
Genes and mutations in autosomal dominant cone and cone-rod dystrophySusanne Kohl, Veronique Kitiratschky, Monika Papke, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophiesVeronique B D Kitiratschky, Tanja Grau, Antje Bernd, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
Pageof 1