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Orsetta Zuffardi

Showing results (51-60 of 222) with videos related to

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Molecular Cytogenetics|June 16, 2020
Targeted next-generation sequencing identifies the disruption of the <i>SHANK3</i> and <i>RYR2</i> genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndromeMaria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, et al.
European Journal of Human Genetics : EJHG|July 29, 2004
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28Francesca Rossetti, Flavio Rizzolio, Tiziano Pramparo, et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology|September 11, 2012
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1)Esmeralda Matute, Olga Inozemtseva, Adriana Aguilar-Lemarroy, et al.
Omics : a Journal of Integrative Biology|February 16, 2011
Identification of novel prognostic markers in relapsing localized resectable neuroblastomaFederica Parodi, Lorena Passoni, Luisa Massimo, et al.
BMC Medical Genetics|December 15, 2017
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patientsMonica Cattaneo, Lucia La Sala, Maurizio Rondinelli, et al.
Molecular Cytogenetics|January 30, 2014
MECP2 duplication phenotype in symptomatic females: report of three further casesFrancesca Novara, Alessandro Simonati, Federico Sicca, et al.
Genes|July 2, 2021
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in FemalesIlenia Maini, Stefano G Caraffi, Francesca Peluso, et al.
Chromosoma|February 16, 2008
Evolutionary and clinical neocentromeres: two faces of the same coin?Oronzo Capozzi, Stefania Purgato, Ludovica Verdun di Cantogno, et al.
European Journal of Human Genetics : EJHG|November 1, 2006
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locusClaudia Torniero, Bernardo dalla Bernardina, Francesca Novara, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile maleTiziano Pramparo, Giuliana Gregato, Manuela De Gregori, et al.
Pageof 23

Showing results (51-60 of 222) with videos related to

Sort By:
Pageof 23
Molecular Cytogenetics|June 16, 2020
Targeted next-generation sequencing identifies the disruption of the <i>SHANK3</i> and <i>RYR2</i> genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndromeMaria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, et al.
European Journal of Human Genetics : EJHG|July 29, 2004
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28Francesca Rossetti, Flavio Rizzolio, Tiziano Pramparo, et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology|September 11, 2012
Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1)Esmeralda Matute, Olga Inozemtseva, Adriana Aguilar-Lemarroy, et al.
Omics : a Journal of Integrative Biology|February 16, 2011
Identification of novel prognostic markers in relapsing localized resectable neuroblastomaFederica Parodi, Lorena Passoni, Luisa Massimo, et al.
BMC Medical Genetics|December 15, 2017
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patientsMonica Cattaneo, Lucia La Sala, Maurizio Rondinelli, et al.
Molecular Cytogenetics|January 30, 2014
MECP2 duplication phenotype in symptomatic females: report of three further casesFrancesca Novara, Alessandro Simonati, Federico Sicca, et al.
Genes|July 2, 2021
Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in FemalesIlenia Maini, Stefano G Caraffi, Francesca Peluso, et al.
Chromosoma|February 16, 2008
Evolutionary and clinical neocentromeres: two faces of the same coin?Oronzo Capozzi, Stefania Purgato, Ludovica Verdun di Cantogno, et al.
European Journal of Human Genetics : EJHG|November 1, 2006
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locusClaudia Torniero, Bernardo dalla Bernardina, Francesca Novara, et al.
American Journal of Medical Genetics. Part A|October 14, 2003
Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile maleTiziano Pramparo, Giuliana Gregato, Manuela De Gregori, et al.
Pageof 23