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Orsetta Zuffardi

Showing results (171-180 of 222) with videos related to

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Nature Communications|March 17, 2023
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
Clinical Chemistry and Laboratory Medicine|September 25, 2004
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality AssuranceDomenica Taruscio, Vincenzo Falbo, Giovanna Floridia, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platformErika Della Mina, Roberto Ciccone, Francesca Brustia, et al.
Cytotherapy|October 8, 2013
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approachAlessandro Borghesi, Maria Antonietta Avanzini, Francesca Novara, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
Journal of Medical Genetics|February 28, 2012
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencyLeonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, et al.
Journal of Medical Genetics|January 9, 2007
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsLucia Ballarati, Elena Rossi, Maria Teresa Bonati, et al.
Blood|July 25, 2009
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality markerGiovanna Piaggio, Vittorio Rosti, Mirko Corselli, et al.
Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.
Pageof 23

Showing results (171-180 of 222) with videos related to

Sort By:
Pageof 23
Nature Communications|March 17, 2023
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
European Journal of Human Genetics : EJHG|January 8, 2015
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureMaria Andrea Desbats, Annalisa Vetro, Ivan Limongelli, et al.
Clinical Chemistry and Laboratory Medicine|September 25, 2004
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality AssuranceDomenica Taruscio, Vincenzo Falbo, Giovanna Floridia, et al.
European Journal of Human Genetics : EJHG|May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platformErika Della Mina, Roberto Ciccone, Francesca Brustia, et al.
Cytotherapy|October 8, 2013
Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approachAlessandro Borghesi, Maria Antonietta Avanzini, Francesca Novara, et al.
Frontiers in Genetics|August 28, 2023
Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformationRoberta Zuntini, Chiara Cattani, Lucia Pedace, et al.
Journal of Medical Genetics|February 28, 2012
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencyLeonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, et al.
Journal of Medical Genetics|January 9, 2007
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsLucia Ballarati, Elena Rossi, Maria Teresa Bonati, et al.
Blood|July 25, 2009
Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality markerGiovanna Piaggio, Vittorio Rosti, Mirko Corselli, et al.
Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.
Pageof 23