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Laura Bernardini

Showing results (61-70 of 157) with videos related to

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Cancers|October 14, 2022
Primary Resistance to Immunotherapy-Based Regimens in First Line Hepatocellular Carcinoma: Perspectives on Jumping the HurdleFrancesca Salani, Virginia Genovesi, Caterina Vivaldi, et al.
Clinical Dysmorphology|December 18, 2008
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardationMilen Velinov, Antonio Novelli, Hong Gu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2013
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigreesAntonio E Elia, Simona Petrucci, Alfonso Fasano, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome)Chiara Leoni, Laura Cesarini, Serena Dittoni, et al.
Genes, Chromosomes & Cancer|July 30, 2008
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOFAngelo Carbone, Laura Bernardini, Francesco Valenzano, et al.
Genomics Insights|August 18, 2015
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal AbnormalitiesStefano Gambardella, Erika Ciabattoni, Francesca Motta, et al.
European Journal of Medical Genetics|October 1, 2019
Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findingsGioia Mastromoro, Anna Capalbo, Cristiana Alessia Guido, et al.
American Journal of Medical Genetics. Part A|July 8, 2020
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12ATanguy Niclass, Gwenael Le Guyader, Claire Beneteau, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2016
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangementLuigi Laino, Irene Bottillo, Caterina Piedimonte, et al.
American Journal of Medical Genetics. Part A|December 28, 2019
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1Maria G Giuffrida, Gioia Mastromoro, Valentina Guida, et al.
Pageof 16

Showing results (61-70 of 157) with videos related to

Sort By:
Pageof 16
Cancers|October 14, 2022
Primary Resistance to Immunotherapy-Based Regimens in First Line Hepatocellular Carcinoma: Perspectives on Jumping the HurdleFrancesca Salani, Virginia Genovesi, Caterina Vivaldi, et al.
Clinical Dysmorphology|December 18, 2008
De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardationMilen Velinov, Antonio Novelli, Hong Gu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2013
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigreesAntonio E Elia, Simona Petrucci, Alfonso Fasano, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome)Chiara Leoni, Laura Cesarini, Serena Dittoni, et al.
Genes, Chromosomes & Cancer|July 30, 2008
Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOFAngelo Carbone, Laura Bernardini, Francesco Valenzano, et al.
Genomics Insights|August 18, 2015
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal AbnormalitiesStefano Gambardella, Erika Ciabattoni, Francesca Motta, et al.
European Journal of Medical Genetics|October 1, 2019
Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findingsGioia Mastromoro, Anna Capalbo, Cristiana Alessia Guido, et al.
American Journal of Medical Genetics. Part A|July 8, 2020
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12ATanguy Niclass, Gwenael Le Guyader, Claire Beneteau, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2016
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangementLuigi Laino, Irene Bottillo, Caterina Piedimonte, et al.
American Journal of Medical Genetics. Part A|December 28, 2019
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1Maria G Giuffrida, Gioia Mastromoro, Valentina Guida, et al.
Pageof 16