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Lidia Larizza

Showing results (111-120 of 150) with videos related to

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BMC Medical Genetics|October 14, 2010
Genetic investigations on 8 patients affected by ring 20 chromosome syndromeDaniela Giardino, Aglaia Vignoli, Lucia Ballarati, et al.
Genomics|September 15, 2007
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpointsCristina Gervasini, Paola Castronovo, Angela Bentivegna, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 18, 2010
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndromeCristina Gervasini, Francesca Romana Grati, Faustina Lalatta, et al.
Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Molecular Cytogenetics|April 6, 2012
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypePalma Finelli, Silvia Maria Sirchia, Maura Masciadri, et al.
Epigenetics|August 7, 2013
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndromeMariarosaria Calvello, Silvia Tabano, Patrizia Colapietro, et al.
Frontiers in Genetics|November 22, 2019
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar PhenotypesMilena Crippa, Maria Teresa Bonati, Luciano Calzari, et al.
Molecular Cytogenetics|November 1, 2013
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomesChiara Castronovo, Emanuele Valtorta, Milena Crippa, et al.
BMC Medical Genetics|October 21, 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna, Donatella Milani, Cristina Gervasini, et al.
Pageof 15

Showing results (111-120 of 150) with videos related to

Sort By:
Pageof 15
BMC Medical Genetics|October 14, 2010
Genetic investigations on 8 patients affected by ring 20 chromosome syndromeDaniela Giardino, Aglaia Vignoli, Lucia Ballarati, et al.
Genomics|September 15, 2007
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpointsCristina Gervasini, Paola Castronovo, Angela Bentivegna, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 18, 2010
SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndromeCristina Gervasini, Francesca Romana Grati, Faustina Lalatta, et al.
Genes|April 30, 2021
Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New CasesPierpaola Tannorella, Daniele Minervino, Sara Guzzetti, et al.
Human Mutation|October 22, 2015
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical HallmarksGloria Negri, Pamela Magini, Donatella Milani, et al.
Molecular Cytogenetics|April 6, 2012
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypePalma Finelli, Silvia Maria Sirchia, Maura Masciadri, et al.
Epigenetics|August 7, 2013
Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndromeMariarosaria Calvello, Silvia Tabano, Patrizia Colapietro, et al.
Frontiers in Genetics|November 22, 2019
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar PhenotypesMilena Crippa, Maria Teresa Bonati, Luciano Calzari, et al.
Molecular Cytogenetics|November 1, 2013
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomesChiara Castronovo, Emanuele Valtorta, Milena Crippa, et al.
BMC Medical Genetics|October 21, 2006
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patientsAngela Bentivegna, Donatella Milani, Cristina Gervasini, et al.
Pageof 15