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Lidia Larizza

Showing results (31-40 of 150) with videos related to

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Frontiers in Neurology|December 13, 2018
Recurrence and Familial Inheritance of Intronic <i>NIPBL</i> Pathogenic Variant Associated With Mild CdLSMaura Masciadri, Anna Ficcadenti, Donatella Milani, et al.
European Journal of Medical Genetics|July 13, 2010
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomaliesRossella Caselli, Lucia Ballarati, Angelo Selicorni, et al.
International Journal of Molecular Sciences|November 14, 2020
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell SyndromeIlaria Catusi, Maria Teresa Bonati, Ester Mainini, et al.
European Journal of Medical Genetics|January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotoniaLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Genomics|January 29, 2005
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 geneCristina Gervasini, Marco Venturin, Francesca Orzan, et al.
Frontiers in Neurology|December 28, 2020
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping PhenotypesAngela Peron, Ilaria Catusi, Maria Paola Recalcati, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.
American Journal of Medical Genetics|September 5, 2002
Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlationDaniela Giardino, Palma Finelli, Silvia Russo, et al.
The Journal of Pediatrics|July 4, 2016
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening ProtocolAlessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotypeElisa Adele Colombo, Laura Fontana, Gaia Roversi, et al.
Pageof 15

Showing results (31-40 of 150) with videos related to

Sort By:
Pageof 15
Frontiers in Neurology|December 13, 2018
Recurrence and Familial Inheritance of Intronic <i>NIPBL</i> Pathogenic Variant Associated With Mild CdLSMaura Masciadri, Anna Ficcadenti, Donatella Milani, et al.
European Journal of Medical Genetics|July 13, 2010
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomaliesRossella Caselli, Lucia Ballarati, Angelo Selicorni, et al.
International Journal of Molecular Sciences|November 14, 2020
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell SyndromeIlaria Catusi, Maria Teresa Bonati, Ester Mainini, et al.
European Journal of Medical Genetics|January 3, 2012
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotoniaLucia Ballarati, Anna Cereda, Rossella Caselli, et al.
Genomics|January 29, 2005
Uncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 geneCristina Gervasini, Marco Venturin, Francesca Orzan, et al.
Frontiers in Neurology|December 28, 2020
Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping PhenotypesAngela Peron, Ilaria Catusi, Maria Paola Recalcati, et al.
Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology|August 20, 2009
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndromePaola Castronovo, Cristina Gervasini, Anna Cereda, et al.
American Journal of Medical Genetics|September 5, 2002
Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlationDaniela Giardino, Palma Finelli, Silvia Russo, et al.
The Journal of Pediatrics|July 4, 2016
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening ProtocolAlessandro Mussa, Cristina Molinatto, Giuseppina Baldassarre, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotypeElisa Adele Colombo, Laura Fontana, Gaia Roversi, et al.
Pageof 15