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Jacopo Celli

Showing results (1-10 of 11) with videos related to

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European Journal of Medical Genetics|July 15, 2014
Genetics of gastrointestinal atresiasJacopo Celli
Human Mutation|October 21, 2016
The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant DatabaseJacopo Celli, Gudrun Rappold, Beate Niesler
American Journal of Medical Genetics. Part A|October 1, 2003
Feingold syndrome: clinical review and genetic mappingJacopo Celli, Hans van Bokhoven, Han G Brunner
Human Mutation|October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Cancers|January 21, 2022
Clinical Significance and Regulation of ERK5 Expression and Function in CancerMatilde Monti, Jacopo Celli, Francesco Missale, et al.
Nature Genetics|April 12, 2005
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndromeHans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, et al.
Annals of Human Genetics|August 14, 2012
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessmentEbele Usifo, Sarah E A Leigh, Ros A Whittall, et al.
Human Mutation|April 8, 2011
Mutation update for the PORCN geneMaria Paola Lombardi, Saskia Bulk, Jacopo Celli, et al.
American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
European Journal of Medical Genetics|July 15, 2014
Genetics of gastrointestinal atresiasJacopo Celli
Human Mutation|October 21, 2016
The Human Serotonin Type 3 Receptor Gene (HTR3A-E) Allelic Variant DatabaseJacopo Celli, Gudrun Rappold, Beate Niesler
American Journal of Medical Genetics. Part A|October 1, 2003
Feingold syndrome: clinical review and genetic mappingJacopo Celli, Hans van Bokhoven, Han G Brunner
Human Mutation|October 13, 2011
Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli, Raymond Dalgleish, Mauno Vihinen, et al.
Cancers|January 21, 2022
Clinical Significance and Regulation of ERK5 Expression and Function in CancerMatilde Monti, Jacopo Celli, Francesco Missale, et al.
Nature Genetics|April 12, 2005
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndromeHans van Bokhoven, Jacopo Celli, Jeroen van Reeuwijk, et al.
Annals of Human Genetics|August 14, 2012
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessmentEbele Usifo, Sarah E A Leigh, Ros A Whittall, et al.
Human Mutation|April 8, 2011
Mutation update for the PORCN geneMaria Paola Lombardi, Saskia Bulk, Jacopo Celli, et al.
American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Pageof 2