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Lidia Pezzani

Showing results (21-30 of 38) with videos related to

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Frontiers in Pediatrics|March 24, 2025
Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladderRiccardo Pagani, Laura Lorioli, Francesca Favini, et al.
American Journal of Medical Genetics. Part A|February 11, 2023
Rock around DYRK1A: Ethnic diversity, clinical challengesAlice Moroni, Lidia Pezzani, Enrico Alfei, et al.
Genes|July 27, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed PatientsErica Rosina, Lidia Pezzani, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathyLidia Pezzani, Daniela Marchetti, Anna Cereda, et al.
Human Genetics|May 16, 2024
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathiesElisabetta Di Fede, Antonella Lettieri, Esi Taci, et al.
BMC Medical Genetics|October 20, 2017
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele casesMaria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, et al.
Clinical Genetics|November 25, 2018
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twinsLeda Paganini, Loubna A Hadi, Massimiliano Chetta, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matterSilvia Castiglioni, Laura Pezzoli, Lidia Pezzani, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, et al.
Genes|November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number VariationsCamilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Frontiers in Pediatrics|March 24, 2025
Case Report: Early diagnosis of LAD-III in newborn with persistent leukocytosis and hemangioma-like lesion of the urinary bladderRiccardo Pagani, Laura Lorioli, Francesca Favini, et al.
American Journal of Medical Genetics. Part A|February 11, 2023
Rock around DYRK1A: Ethnic diversity, clinical challengesAlice Moroni, Lidia Pezzani, Enrico Alfei, et al.
Genes|July 27, 2022
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed PatientsErica Rosina, Lidia Pezzani, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Atypical presentation of pediatric BRAF RASopathy with acute encephalopathyLidia Pezzani, Daniela Marchetti, Anna Cereda, et al.
Human Genetics|May 16, 2024
Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathiesElisabetta Di Fede, Antonella Lettieri, Esi Taci, et al.
BMC Medical Genetics|October 20, 2017
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele casesMaria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, et al.
Clinical Genetics|November 25, 2018
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twinsLeda Paganini, Loubna A Hadi, Massimiliano Chetta, et al.
Orphanet Journal of Rare Diseases|December 20, 2024
Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matterSilvia Castiglioni, Laura Pezzoli, Lidia Pezzani, et al.
Molecular Genetics & Genomic Medicine|January 17, 2020
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, et al.
Genes|November 27, 2024
Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number VariationsCamilla Meossi, Alessia Carrer, Claudia Ciaccio, et al.
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