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Donatella Milani

Showing results (61-70 of 140) with videos related to

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Italian Journal of Pediatrics|February 16, 2021
Incidental finding of APC deletion in a child: double trouble or double chance? - a case reportErica Rosina, Berardo Rinaldi, Rosamaria Silipigni, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 12, 2018
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approachPaola F Ajmone, Sabrina Avignone, Cristina Gervasini, et al.
BMC Medical Genomics|October 1, 2018
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature reviewAnna Pichiecchio, Giovanni Vitale, Camilla Caporali, et al.
Italian Journal of Pediatrics|September 18, 2024
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patientsElisabetta Prada, Camilla Meossi, Denise Piras Marafon, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 13, 2026
Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical ManagementPaola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, et al.
Congenital Anomalies|September 2, 2014
Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlationsDonatella Milani, Caterina Sabatini, Francesca Maria Paola Manzoni, et al.
Medicine|December 9, 2016
A case report with the peculiar concomitance of 2 different genetic syndromesAlberto Lerario, Irene Colombo, Donatella Milani, et al.
European Journal of Human Genetics : EJHG|July 13, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleAlessandra Sironi, Ilaria Bestetti, Maura Masciadri, et al.
Brain & Development|February 13, 2016
Electroclinical phenotype in Rubinstein-Taybi syndromeAntonella Giacobbe, Paola Francesca Ajmone, Donatella Milani, et al.
Italian Journal of Pediatrics|September 28, 2024
A long way to syndromic short statureFederica Gaudioso, Camilla Meossi, Lidia Pezzani, et al.
Pageof 14

Showing results (61-70 of 140) with videos related to

Sort By:
Pageof 14
Italian Journal of Pediatrics|February 16, 2021
Incidental finding of APC deletion in a child: double trouble or double chance? - a case reportErica Rosina, Berardo Rinaldi, Rosamaria Silipigni, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|April 12, 2018
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approachPaola F Ajmone, Sabrina Avignone, Cristina Gervasini, et al.
BMC Medical Genomics|October 1, 2018
New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature reviewAnna Pichiecchio, Giovanni Vitale, Camilla Caporali, et al.
Italian Journal of Pediatrics|September 18, 2024
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patientsElisabetta Prada, Camilla Meossi, Denise Piras Marafon, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 13, 2026
Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical ManagementPaola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, et al.
Congenital Anomalies|September 2, 2014
Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlationsDonatella Milani, Caterina Sabatini, Francesca Maria Paola Manzoni, et al.
Medicine|December 9, 2016
A case report with the peculiar concomitance of 2 different genetic syndromesAlberto Lerario, Irene Colombo, Donatella Milani, et al.
European Journal of Human Genetics : EJHG|July 13, 2022
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 alleleAlessandra Sironi, Ilaria Bestetti, Maura Masciadri, et al.
Brain & Development|February 13, 2016
Electroclinical phenotype in Rubinstein-Taybi syndromeAntonella Giacobbe, Paola Francesca Ajmone, Donatella Milani, et al.
Italian Journal of Pediatrics|September 28, 2024
A long way to syndromic short statureFederica Gaudioso, Camilla Meossi, Lidia Pezzani, et al.
Pageof 14