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Orsetta Zuffardi

Showing results (181-190 of 222) with videos related to

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Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Blood|November 7, 2012
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutationVittorio Rosti, Laura Villani, Roberta Riboni, et al.
Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2013
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testingParaskevi Salpea, Anelia Horvath, Edra London, et al.
Nature|October 6, 2016
Formation of new chromatin domains determines pathogenicity of genomic duplicationsMartin Franke, Daniel M Ibrahim, Guillaume Andrey, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|September 20, 2011
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23)Marcella Broli, Francesca Bisulli, Massimo Mastrangelo, et al.
Human Mutation|November 10, 2018
Small supernumerary marker chromosomes: A legacy of trisomy rescue?Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, et al.
Pageof 23

Showing results (181-190 of 222) with videos related to

Sort By:
Pageof 23
Genes|August 27, 2021
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the <i>CEP85L</i> Gene: A Case Report and Refining of the Phenotypic SpectrumGianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, et al.
Genes|July 2, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous CouplesFrancesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Blood|November 7, 2012
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutationVittorio Rosti, Laura Villani, Roberta Riboni, et al.
Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.
The Journal of Clinical Endocrinology and Metabolism|October 31, 2013
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testingParaskevi Salpea, Anelia Horvath, Edra London, et al.
Nature|October 6, 2016
Formation of new chromatin domains determines pathogenicity of genomic duplicationsMartin Franke, Daniel M Ibrahim, Guillaume Andrey, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|September 20, 2011
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23)Marcella Broli, Francesca Bisulli, Massimo Mastrangelo, et al.
Human Mutation|November 10, 2018
Small supernumerary marker chromosomes: A legacy of trisomy rescue?Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, et al.
Pageof 23