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Maria Iascone

Showing results (41-50 of 178) with videos related to

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Journal of Pediatric Genetics|April 29, 2020
Familial Sleep Disorders in Unknown Genetic SyndromeMara Lelii, Elena Baggi, Laura Senatore, et al.
Italian Journal of Pediatrics|May 7, 2024
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndromeEster Capecchi, Roberta Villa, Alessandro Pini, et al.
Italian Journal of Pediatrics|February 7, 2026
Keeping up the beat of Kleefstra syndromeGiulia Bruna Marchetti, Federica Gaudioso, Camilla Meossi, 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.
American Journal of Medical Genetics. Part A|April 10, 2025
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos SyndromeFederica Russo, Cecilia Daolio, Ester Di Muro, et al.
Neurogenetics|March 18, 2024
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literatureFederica Teutonico, Clara Volpe, Alice Proto, et al.
Molecular Genetics & Genomic Medicine|July 28, 2021
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvementFederica Ruscitti, Lucia Trevisan, Giulia Rosti, et al.
British Journal of Haematology|March 21, 2020
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndromeFrancesco Saettini, Alessandro Cattoni, Mariella D'Angio', et al.
American Journal of Medical Genetics. Part A|March 9, 2026
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity EvidenceEmanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, et al.
Neurology. Genetics|August 14, 2024
Novel Genetic Variant in <i>HUWE1</i>: Prenatal and Postnatal Neuroimaging PhenotypeMario Tortora, Elisa Cattaneo, Luigina Spaccini, et al.
Pageof 18

Showing results (41-50 of 178) with videos related to

Sort By:
Pageof 18
Journal of Pediatric Genetics|April 29, 2020
Familial Sleep Disorders in Unknown Genetic SyndromeMara Lelii, Elena Baggi, Laura Senatore, et al.
Italian Journal of Pediatrics|May 7, 2024
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndromeEster Capecchi, Roberta Villa, Alessandro Pini, et al.
Italian Journal of Pediatrics|February 7, 2026
Keeping up the beat of Kleefstra syndromeGiulia Bruna Marchetti, Federica Gaudioso, Camilla Meossi, 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.
American Journal of Medical Genetics. Part A|April 10, 2025
Whole Blood Multi-OMIC Analysis Is Effective in Clinical Interpretation of Splicing Aberrations in PLOD1-Related Kyphoscoliotic Ehlers-Danlos SyndromeFederica Russo, Cecilia Daolio, Ester Di Muro, et al.
Neurogenetics|March 18, 2024
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literatureFederica Teutonico, Clara Volpe, Alice Proto, et al.
Molecular Genetics & Genomic Medicine|July 28, 2021
A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvementFederica Ruscitti, Lucia Trevisan, Giulia Rosti, et al.
British Journal of Haematology|March 21, 2020
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman-Diamond-like syndromeFrancesco Saettini, Alessandro Cattoni, Mariella D'Angio', et al.
American Journal of Medical Genetics. Part A|March 9, 2026
Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity EvidenceEmanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, et al.
Neurology. Genetics|August 14, 2024
Novel Genetic Variant in <i>HUWE1</i>: Prenatal and Postnatal Neuroimaging PhenotypeMario Tortora, Elisa Cattaneo, Luigina Spaccini, et al.
Pageof 18