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Lidia Larizza

Showing results (71-80 of 150) with videos related to

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European Journal of Human Genetics : EJHG|July 13, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleAlessandra Sironi, Ilaria Bestetti, Maura Masciadri, et al.
Psychiatry Research|July 9, 2010
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, et al.
International Journal of Cancer|September 25, 2003
Mapping of candidate region for chordoma development to 1p36.13 by LOH analysisPaola Riva, Francesca Crosti, Francesca Orzan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2007
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBLFaustina Lalatta, Silvia Russo, Barbara Gentilin, et al.
Annals of Clinical and Translational Neurology|April 22, 2020
A familial t(4;8) translocation segregates with epilepsy and migraine with auraMilena Crippa, Paola Malatesta, Maria Teresa Bonati, et al.
Frontiers in Genetics|August 2, 2023
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrumAlessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, et al.
Journal of Clinical Immunology|May 18, 2018
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsElisa A Colombo, Nursel H Elcioglu, Claudio Graziano, et al.
Leukemia Research|March 16, 2010
Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38- compartmentLaura Pedranzini, Federica Mottadelli, Simona Ronzoni, et al.
International Journal of Molecular Sciences|February 25, 2023
Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular ModelingElisa Adele Colombo, Michele Valiante, Matteo Uggeri, et al.
Molecular Neurobiology|June 21, 2020
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal DifferentiationLuciano Calzari, Matteo Barcella, Valentina Alari, et al.
Pageof 15

Showing results (71-80 of 150) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|July 13, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleAlessandra Sironi, Ilaria Bestetti, Maura Masciadri, et al.
Psychiatry Research|July 9, 2010
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3AGuia Guffanti, Luisa Strik Lievers, Maria Teresa Bonati, et al.
International Journal of Cancer|September 25, 2003
Mapping of candidate region for chordoma development to 1p36.13 by LOH analysisPaola Riva, Francesca Crosti, Francesca Orzan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2007
Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBLFaustina Lalatta, Silvia Russo, Barbara Gentilin, et al.
Annals of Clinical and Translational Neurology|April 22, 2020
A familial t(4;8) translocation segregates with epilepsy and migraine with auraMilena Crippa, Paola Malatesta, Maria Teresa Bonati, et al.
Frontiers in Genetics|August 2, 2023
Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrumAlessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, et al.
Journal of Clinical Immunology|May 18, 2018
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic VariantsElisa A Colombo, Nursel H Elcioglu, Claudio Graziano, et al.
Leukemia Research|March 16, 2010
Differential cytogenomics and miRNA signature of the Acute Myeloid Leukaemia Kasumi-1 cell line CD34+38- compartmentLaura Pedranzini, Federica Mottadelli, Simona Ronzoni, et al.
International Journal of Molecular Sciences|February 25, 2023
Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund-Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular ModelingElisa Adele Colombo, Michele Valiante, Matteo Uggeri, et al.
Molecular Neurobiology|June 21, 2020
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal DifferentiationLuciano Calzari, Matteo Barcella, Valentina Alari, et al.
Pageof 15