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Peter E M Taschner

Showing results (1-10 of 25) with videos related to

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Human Mutation|February 11, 2011
Describing structural changes by extending HGVS sequence variation nomenclaturePeter E M Taschner, Johan T den Dunnen
Human Mutation|December 28, 2016
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and PublicationsThierry Soussi, Peter E M Taschner, Yardena Samuels
Human Mutation|April 15, 2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing eraThierry Soussi, Bernard Leroy, Peter E M Taschner
Biochimica Et Biophysica Acta|May 27, 2008
Caenorhabditis elegans as a model for lysosomal storage disordersGert de Voer, Dorien Peters, Peter E M Taschner
BMC Medical Genetics|November 18, 2005
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiencyJean-Pierre Bayley, Peter Devilee, Peter E M Taschner
Human Mutation|June 25, 2005
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema, Johan T den Dunnen, Peter E M Taschner
Human Mutation|November 15, 2007
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checkerMartin Wildeman, Ernest van Ophuizen, Johan T den Dunnen, et al.
The Laryngoscope|June 5, 2003
Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?Soo-Chin Lee, Siok-Bee Chionh, Siew-Meng Chong, et al.
BMC Bioinformatics|October 14, 2011
A formalized description of the standard human variant nomenclature in Extended Backus-Naur FormJeroen F J Laros, André Blavier, Johan T den Dunnen, et al.
Human Mutation|October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Human Mutation|February 11, 2011
Describing structural changes by extending HGVS sequence variation nomenclaturePeter E M Taschner, Johan T den Dunnen
Human Mutation|December 28, 2016
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and PublicationsThierry Soussi, Peter E M Taschner, Yardena Samuels
Human Mutation|April 15, 2014
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing eraThierry Soussi, Bernard Leroy, Peter E M Taschner
Biochimica Et Biophysica Acta|May 27, 2008
Caenorhabditis elegans as a model for lysosomal storage disordersGert de Voer, Dorien Peters, Peter E M Taschner
BMC Medical Genetics|November 18, 2005
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiencyJean-Pierre Bayley, Peter Devilee, Peter E M Taschner
Human Mutation|June 25, 2005
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema, Johan T den Dunnen, Peter E M Taschner
Human Mutation|November 15, 2007
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checkerMartin Wildeman, Ernest van Ophuizen, Johan T den Dunnen, et al.
The Laryngoscope|June 5, 2003
Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?Soo-Chin Lee, Siok-Bee Chionh, Siew-Meng Chong, et al.
BMC Bioinformatics|October 14, 2011
A formalized description of the standard human variant nomenclature in Extended Backus-Naur FormJeroen F J Laros, André Blavier, Johan T den Dunnen, et al.
Human Mutation|October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Pageof 3