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Donatella Milani

Showing results (51-60 of 140) with videos related to

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American Journal of Medical Genetics. Part A|September 21, 2020
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutationElena Cacciatori, Mara Lelii, Silvia Russo, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patientsMaria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, et al.
American Journal of Medical Genetics. Part A|January 24, 2013
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotypeChiara Castronovo, Daniela Rusconi, Milena Crippa, et al.
Molecular Cytogenetics|September 26, 2018
13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literatureIlaria Bestetti, Alessandra Sironi, Ilaria Catusi, et al.
Molecular Genetics & Genomic Medicine|October 4, 2019
Unexpected phenotype in a frameshift mutation of PTCH1Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, et al.
European Journal of Medical Genetics|December 12, 2018
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experienceClaudia Ciaccio, Veronica Saletti, Stefano D'Arrigo, et al.
Frontiers in Neurology|January 4, 2021
Identification of <i>SETBP1</i> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromesEnrico Alfei, Federico Raviglione, Silvana Franceschetti, et al.
Kidney Medicine|February 2, 2026
ReNU Syndrome due to a de novo <i>RNU4-2</i> Variant as a Novel Genetic Cause of ProteinuriaWilliam Morello, Greta Armaroli, Donatella Milani, et al.
American Journal of Medical Genetics. Part A|November 11, 2020
Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patientsElisabetta Pangallo, Paola Cianci, Filippo Favuzza, et al.
Pageof 14

Showing results (51-60 of 140) with videos related to

Sort By:
Pageof 14
American Journal of Medical Genetics. Part A|September 21, 2020
Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutationElena Cacciatori, Mara Lelii, Silvia Russo, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patientsMaria Francesca Bedeschi, Vera Bianchi, Anna Maria Colli, et al.
American Journal of Medical Genetics. Part A|January 24, 2013
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotypeChiara Castronovo, Daniela Rusconi, Milena Crippa, et al.
Molecular Cytogenetics|September 26, 2018
13q mosaic deletion including <i>RB1</i> associated to mild phenotype and no cancer outcome - case report and review of the literatureIlaria Bestetti, Alessandra Sironi, Ilaria Catusi, et al.
Molecular Genetics & Genomic Medicine|October 4, 2019
Unexpected phenotype in a frameshift mutation of PTCH1Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, et al.
European Journal of Medical Genetics|December 12, 2018
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experienceClaudia Ciaccio, Veronica Saletti, Stefano D'Arrigo, et al.
Frontiers in Neurology|January 4, 2021
Identification of <i>SETBP1</i> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromesEnrico Alfei, Federico Raviglione, Silvana Franceschetti, et al.
Kidney Medicine|February 2, 2026
ReNU Syndrome due to a de novo <i>RNU4-2</i> Variant as a Novel Genetic Cause of ProteinuriaWilliam Morello, Greta Armaroli, Donatella Milani, et al.
American Journal of Medical Genetics. Part A|November 11, 2020
Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patientsElisabetta Pangallo, Paola Cianci, Filippo Favuzza, et al.
Pageof 14