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Maria Iascone

Showing results (11-20 of 178) with videos related to

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Molecular Syndromology|January 20, 2023
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery WheelSebastiano Aleo, Lidia Pezzani, Donatella Milani, et al.
Neuropediatrics|November 29, 2021
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related DisorderEnrico Alfei, Elisa Cattaneo, Luigina Spaccini, et al.
Clinical Dysmorphology|October 1, 2019
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndromePaola Cianci, Laura Pezzoli, Silvia Maitz, et al.
Molecular Genetics & Genomic Medicine|March 23, 2019
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literatureBarbara Scelsa, Serena Gasperini, Andrea Righini, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|April 1, 2026
Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic SpectrumFabio Bruschi, Clara E Antonello, Cecilia Parazzini, et al.
Fetal and Pediatric Pathology|February 6, 2016
Neonatal Jaundice with Splenomegaly: Not a Common PickGiacomo Gotti, Antonio Marseglia, Costantino De Giacomo, et al.
Bioinformatics (Oxford, England)|October 26, 2010
GAMES identifies and annotates mutations in next-generation sequencing projectsMaria Elena Sana, Maria Iascone, Daniela Marchetti, et al.
Molecular Genetics & Genomic Medicine|May 16, 2020
Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndromeCatia Mio, Federico Fogolari, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A|March 22, 2020
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literatureAngela Peron, Maria Iascone, Elisabetta Salvatici, et al.
Neurology. Genetics|September 1, 2022
Severe Epilepsy and Movement Disorder May Be Early Symptoms of <i>TMEM106B</i>-Related Hypomyelinating LeukodystrophyRoberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, et al.
Pageof 18

Showing results (11-20 of 178) with videos related to

Sort By:
Pageof 18
Molecular Syndromology|January 20, 2023
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery WheelSebastiano Aleo, Lidia Pezzani, Donatella Milani, et al.
Neuropediatrics|November 29, 2021
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related DisorderEnrico Alfei, Elisa Cattaneo, Luigina Spaccini, et al.
Clinical Dysmorphology|October 1, 2019
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndromePaola Cianci, Laura Pezzoli, Silvia Maitz, et al.
Molecular Genetics & Genomic Medicine|March 23, 2019
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literatureBarbara Scelsa, Serena Gasperini, Andrea Righini, et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience|April 1, 2026
Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic SpectrumFabio Bruschi, Clara E Antonello, Cecilia Parazzini, et al.
Fetal and Pediatric Pathology|February 6, 2016
Neonatal Jaundice with Splenomegaly: Not a Common PickGiacomo Gotti, Antonio Marseglia, Costantino De Giacomo, et al.
Bioinformatics (Oxford, England)|October 26, 2010
GAMES identifies and annotates mutations in next-generation sequencing projectsMaria Elena Sana, Maria Iascone, Daniela Marchetti, et al.
Molecular Genetics & Genomic Medicine|May 16, 2020
Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndromeCatia Mio, Federico Fogolari, Laura Pezzoli, et al.
American Journal of Medical Genetics. Part A|March 22, 2020
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literatureAngela Peron, Maria Iascone, Elisabetta Salvatici, et al.
Neurology. Genetics|September 1, 2022
Severe Epilepsy and Movement Disorder May Be Early Symptoms of <i>TMEM106B</i>-Related Hypomyelinating LeukodystrophyRoberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, et al.
Pageof 18