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Donatella Milani

Showing results (71-80 of 140) with videos related to

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American Journal of Medical Genetics. Part A|January 19, 2008
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Lorenzo Pignataro, et al.
European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Genes|February 25, 2023
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos SyndromeBarbara Testa, Giuseppina Conteduca, Marina Grasso, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndromeFrancesca Cogliati, Letizia Straniero, Valeria Rimoldi, et al.
Italian Journal of Pediatrics|February 26, 2025
The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational studyBeatrice Allegri, Paola Francesca Ajmone, Giovanni Michelini, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic MachinerySebastiano Aleo, Claudia Cinnante, Sabrina Avignone, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisLucia Micale, Maria Giuseppina Turturo, Carmela Fusco, et al.
Italian Journal of Pediatrics|April 1, 2021
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case reportGiada Moresco, Jole Costanza, Carlo Santaniello, et al.
American Journal of Medical Genetics. Part A|November 14, 2022
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal studyPaola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, 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.
Pageof 14

Showing results (71-80 of 140) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|January 19, 2008
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndromePaola Marchisio, Angelo Selicorni, Lorenzo Pignataro, et al.
European Journal of Human Genetics : EJHG|February 4, 2010
High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisCristina Gervasini, Federica Mottadelli, Roberto Ciccone, et al.
Genes|February 25, 2023
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos SyndromeBarbara Testa, Giuseppina Conteduca, Marina Grasso, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 22, 2024
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndromeFrancesca Cogliati, Letizia Straniero, Valeria Rimoldi, et al.
Italian Journal of Pediatrics|February 26, 2025
The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational studyBeatrice Allegri, Paola Francesca Ajmone, Giovanni Michelini, et al.
Frontiers in Cell and Developmental Biology|August 28, 2020
Olfactory Malformations in Mendelian Disorders of the Epigenetic MachinerySebastiano Aleo, Claudia Cinnante, Sabrina Avignone, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisLucia Micale, Maria Giuseppina Turturo, Carmela Fusco, et al.
Italian Journal of Pediatrics|April 1, 2021
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case reportGiada Moresco, Jole Costanza, Carlo Santaniello, et al.
American Journal of Medical Genetics. Part A|November 14, 2022
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal studyPaola Francesca Ajmone, Ludovica Giani, Beatrice Allegri, 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.
Pageof 14