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Laura Bernardini

Showing results (51-60 of 157) with videos related to

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American Journal of Medical Genetics. Part A|February 7, 2014
17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literatureLucio Giordano, Filippo Palestra, Maria Grazia Giuffrida, et al.
European Journal of Medical Genetics|January 24, 2007
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlationLaura Bernardini, Anna Capalbo, Maria Gabriella D'Avanzo, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairsMaria Cristina Digilio, Laura Bernardini, Rita Mingarelli, et al.
Diagnostics (Basel, Switzerland)|July 2, 2021
Feasibility of <i>BRCA1/2</i> Testing of Formalin-Fixed and Paraffin-Embedded Pancreatic Tumor Samples: A Consecutive Clinical SeriesRossella Bruno, Elisa Sensi, Cristiana Lupi, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cellsGioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, et al.
Biomolecules|June 2, 2021
Equivalent Efficacy but Different Safety Profiles of Gemcitabine Plus Nab-Paclitaxel and FOLFIRINOX in Metastatic Pancreatic CancerIlario Giovanni Rapposelli, Andrea Casadei-Gardini, Caterina Vivaldi, et al.
American Journal of Medical Genetics. Part A|May 9, 2014
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13Piero Pavone, Silvana Briuglia, Raffaele Falsaperla, et al.
Pediatric Dermatology|October 24, 2024
A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family ReportMarina Goldoni, Barbara Torres, Maurizio Pettinato, et al.
Genes|December 23, 2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical RegionDaniele Guadagnolo, Gioia Mastromoro, Barbara Torres, et al.
Stem Cell Research|June 5, 2021
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP proteinAngela D'Anzi, Filomena Altieri, Elisa Perciballi, et al.
Pageof 16

Showing results (51-60 of 157) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|February 7, 2014
17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literatureLucio Giordano, Filippo Palestra, Maria Grazia Giuffrida, et al.
European Journal of Medical Genetics|January 24, 2007
Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlationLaura Bernardini, Anna Capalbo, Maria Gabriella D'Avanzo, et al.
American Journal of Medical Genetics. Part A|July 18, 2009
3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairsMaria Cristina Digilio, Laura Bernardini, Rita Mingarelli, et al.
Diagnostics (Basel, Switzerland)|July 2, 2021
Feasibility of <i>BRCA1/2</i> Testing of Formalin-Fixed and Paraffin-Embedded Pancreatic Tumor Samples: A Consecutive Clinical SeriesRossella Bruno, Elisa Sensi, Cristiana Lupi, et al.
American Journal of Medical Genetics. Part A|January 4, 2023
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cellsGioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, et al.
Biomolecules|June 2, 2021
Equivalent Efficacy but Different Safety Profiles of Gemcitabine Plus Nab-Paclitaxel and FOLFIRINOX in Metastatic Pancreatic CancerIlario Giovanni Rapposelli, Andrea Casadei-Gardini, Caterina Vivaldi, et al.
American Journal of Medical Genetics. Part A|May 9, 2014
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13Piero Pavone, Silvana Briuglia, Raffaele Falsaperla, et al.
Pediatric Dermatology|October 24, 2024
A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family ReportMarina Goldoni, Barbara Torres, Maurizio Pettinato, et al.
Genes|December 23, 2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical RegionDaniele Guadagnolo, Gioia Mastromoro, Barbara Torres, et al.
Stem Cell Research|June 5, 2021
Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP proteinAngela D'Anzi, Filomena Altieri, Elisa Perciballi, et al.
Pageof 16