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Donatella Milani

Showing results (121-130 of 140) with videos related to

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Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
Molecular Psychiatry|June 13, 2022
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in humanShi-Xiao Peng, Jingwen Pei, Berardo Rinaldi, et al.
Journal of Medical Genetics|March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorderGabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
The British Journal of Dermatology|September 6, 2023
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair lossNicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
Pageof 14

Showing results (121-130 of 140) with videos related to

Sort By:
Pageof 14
Human Genetics|February 28, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challengeMaria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, et al.
Human Genetics|February 27, 2019
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersGloria Negri, Pamela Magini, Donatella Milani, et al.
Human Mutation|June 19, 2019
Characterization of intellectual disability and autism comorbidity through gene panel sequencingMaria C Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, et al.
Molecular Psychiatry|June 13, 2022
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in humanShi-Xiao Peng, Jingwen Pei, Berardo Rinaldi, et al.
Journal of Medical Genetics|March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorderGabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.
Clinical Genetics|April 24, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare DiseasesCamilla Lucca, Erica Rosina, Lidia Pezzani, et al.
International Journal of Molecular Sciences|June 10, 2022
Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG SyndromeIlaria Bestetti, Milena Crippa, Alessandra Sironi, et al.
The British Journal of Dermatology|September 6, 2023
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair lossNicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
Pageof 14