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Donatella Milani

Showing results (91-100 of 140) with videos related to

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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.
European Journal of Human Genetics : EJHG|April 7, 2022
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experienceSofia Douzgou, Janet Dell'Oro, Cristina Rodriguez Fonseca, et al.
Neurogenetics|November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
International Journal of Molecular Sciences|April 3, 2021
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi SyndromeElisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, 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.
Genes|March 25, 2022
<i>KMT2A</i>: Umbrella Gene for Multiple DiseasesSilvia Castiglioni, Elisabetta Di Fede, Clara Bernardelli, et al.
Molecular Cytogenetics|November 1, 2013
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomesChiara Castronovo, Emanuele Valtorta, Milena Crippa, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing lossPaola Primignani, Luca Trotta, Pierangela Castorina, et al.
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Pageof 14

Showing results (91-100 of 140) with videos related to

Sort By:
Pageof 14
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.
European Journal of Human Genetics : EJHG|April 7, 2022
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experienceSofia Douzgou, Janet Dell'Oro, Cristina Rodriguez Fonseca, et al.
Neurogenetics|November 3, 2021
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 geneBerardo Rinaldi, Yu-Han Ge, Elena Freri, et al.
International Journal of Molecular Sciences|April 3, 2021
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi SyndromeElisabetta Di Fede, Emerenziana Ottaviano, Paolo Grazioli, 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.
Genes|March 25, 2022
<i>KMT2A</i>: Umbrella Gene for Multiple DiseasesSilvia Castiglioni, Elisabetta Di Fede, Clara Bernardelli, et al.
Molecular Cytogenetics|November 1, 2013
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomesChiara Castronovo, Emanuele Valtorta, Milena Crippa, et al.
Seizure|January 22, 2026
Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort studyMario Mastrangelo, Manuela Tolve, Irene Valenzuela, et al.
Genetic Testing and Molecular Biomarkers|April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing lossPaola Primignani, Luca Trotta, Pierangela Castorina, et al.
Skeletal Muscle|September 29, 2022
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature reviewFrancesca Magri, Sara Antognozzi, Michela Ripolone, et al.
Pageof 14