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Orsetta Zuffardi

Showing results (71-80 of 222) with videos related to

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American Journal of Medical Genetics. Part A|October 4, 2011
Common structural features characterize interstitial intrachromosomal Xp and 18q triplicationsRoberto Giorda, Silvana Beri, M Clara Bonaglia, et al.
Analytical Cellular Pathology (Amsterdam)|November 4, 2010
Gene copy number variation in male breast cancer by aCGHStefania Tommasi, Anita Mangia, Giuseppina Iannelli, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
8.5 Mb deletion at distal 5p in a male ascertained for azoospermiaElena Rossi, Manuela de Gregori, Maria Grazia Patricelli, et al.
Clinical Genetics|October 15, 2020
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosisEdoardo Errichiello, Alessia Arossa, Angela Iasci, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromesEnrico Alfei, Federico Raviglione, Silvana Franceschetti, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 20, 2011
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysisLucy Costantino, Damiana Rusconi, Laura Claut, et al.
European Journal of Medical Genetics|September 4, 2013
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 geneBaran Bayindir, Elena Piazza, Erika Della Mina, et al.
European Journal of Medical Genetics|March 13, 2012
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlationMaria Piccione, Ettore Piro, Francesca Serraino, et al.
Cellular Oncology (Dordrecht, Netherlands)|May 7, 2011
Gene copy number variation in male breast cancer by aCGHStefania Tommasi, Anita Mangia, Giuseppina Iannelli, et al.
Brain & Development|February 14, 2009
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphismsAntonietta Coppola, Pasquale Striano, Stefania Gimelli, et al.
Pageof 23

Showing results (71-80 of 222) with videos related to

Sort By:
Pageof 23
American Journal of Medical Genetics. Part A|October 4, 2011
Common structural features characterize interstitial intrachromosomal Xp and 18q triplicationsRoberto Giorda, Silvana Beri, M Clara Bonaglia, et al.
Analytical Cellular Pathology (Amsterdam)|November 4, 2010
Gene copy number variation in male breast cancer by aCGHStefania Tommasi, Anita Mangia, Giuseppina Iannelli, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
8.5 Mb deletion at distal 5p in a male ascertained for azoospermiaElena Rossi, Manuela de Gregori, Maria Grazia Patricelli, et al.
Clinical Genetics|October 15, 2020
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosisEdoardo Errichiello, Alessia Arossa, Angela Iasci, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromesEnrico Alfei, Federico Raviglione, Silvana Franceschetti, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|August 20, 2011
A wide methodological approach to identify a large duplication in CFTR gene in a CF patient uncharacterised by sequencing analysisLucy Costantino, Damiana Rusconi, Laura Claut, et al.
European Journal of Medical Genetics|September 4, 2013
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 geneBaran Bayindir, Elena Piazza, Erika Della Mina, et al.
European Journal of Medical Genetics|March 13, 2012
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlationMaria Piccione, Ettore Piro, Francesca Serraino, et al.
Cellular Oncology (Dordrecht, Netherlands)|May 7, 2011
Gene copy number variation in male breast cancer by aCGHStefania Tommasi, Anita Mangia, Giuseppina Iannelli, et al.
Brain & Development|February 14, 2009
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphismsAntonietta Coppola, Pasquale Striano, Stefania Gimelli, et al.
Pageof 23