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Alessandro Vaisfeld

Showing results (1-10 of 21) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 20, 2024
Simpson-Golabi-Behmel syndromeAlessandro Vaisfeld, Giovanni Neri
Genes|October 27, 2022
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New InsightsAlessandro Vaisfeld, Sara Taormina, Alessandro Simonati, et al.
Epilepsia|November 18, 2020
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigmaAlessandro Vaisfeld, Serena Spartano, Giuseppe Gobbi, et al.
American Journal of Medical Genetics. Part A|October 15, 2016
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issueAlessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, et al.
Familial Cancer|July 12, 2019
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?Alessandro Vaisfeld, Martina Calicchia, Maria Grazia Pomponi, et al.
Biomolecules|June 26, 2026
IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy PerspectivesAngela Messina, Angelo Palmigiano, Donata Agata Romeo, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disordersGiuseppe Marangi, Marilena C Di Giacomo, Serena Lattante, et al.
Neurogenetics|April 16, 2024
Two more families supporting the existence of monogenic spinocerebellar ataxia 48Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, et al.
Frontiers in Genetics|August 13, 2025
Case Report: Novel <i>ATP13A2</i> pathogenic variants associated with early-onset parkinsonism and a mini-reviewLeonardo Affronte, Antonella Pini, Claudia Pizzoli, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
3'UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male FetusMaria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, et al.
Pageof 3

Showing results (1-10 of 21) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|May 20, 2024
Simpson-Golabi-Behmel syndromeAlessandro Vaisfeld, Giovanni Neri
Genes|October 27, 2022
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New InsightsAlessandro Vaisfeld, Sara Taormina, Alessandro Simonati, et al.
Epilepsia|November 18, 2020
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigmaAlessandro Vaisfeld, Serena Spartano, Giuseppe Gobbi, et al.
American Journal of Medical Genetics. Part A|October 15, 2016
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issueAlessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, et al.
Familial Cancer|July 12, 2019
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?Alessandro Vaisfeld, Martina Calicchia, Maria Grazia Pomponi, et al.
Biomolecules|June 26, 2026
IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy PerspectivesAngela Messina, Angelo Palmigiano, Donata Agata Romeo, et al.
American Journal of Medical Genetics. Part A|December 12, 2017
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disordersGiuseppe Marangi, Marilena C Di Giacomo, Serena Lattante, et al.
Neurogenetics|April 16, 2024
Two more families supporting the existence of monogenic spinocerebellar ataxia 48Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, et al.
Frontiers in Genetics|August 13, 2025
Case Report: Novel <i>ATP13A2</i> pathogenic variants associated with early-onset parkinsonism and a mini-reviewLeonardo Affronte, Antonella Pini, Claudia Pizzoli, et al.
Diagnostics (Basel, Switzerland)|October 27, 2022
3'UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male FetusMaria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, et al.
Pageof 3