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Giulio Piluso

Showing results (71-80 of 90) with videos related to

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Genes|August 3, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous DisordersTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.
Cancers|January 8, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian CohortRosina Paterra, Paola Bettinaglio, Arianna Borghi, et al.
American Journal of Medical Genetics. Part A|March 11, 2026
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathiesEmanuele Bobbio, Martina Caiazza, Emanuele Monda, et al.
Clinical Genetics|August 4, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findingsAlessandra D'Amico, Carmen Rosano, Luca Pannone, et al.
Human Mutation|May 15, 2025
Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experienceClaudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, et al.
Neuromuscular Disorders : NMD|March 28, 2016
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriersMarco Savarese, Olimpia Musumeci, Teresa Giugliano, et al.
Nature Communications|April 13, 2022
Therapeutic homology-independent targeted integration in retina and liverPatrizia Tornabene, Rita Ferla, Manel Llado-Santaeularia, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|October 27, 2017
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elementsGiulio Piluso, Palmiero Monteleone, Silvana Galderisi, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Pageof 9

Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Genes|August 3, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous DisordersTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.
Cancers|January 8, 2023
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian CohortRosina Paterra, Paola Bettinaglio, Arianna Borghi, et al.
American Journal of Medical Genetics. Part A|March 11, 2026
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathiesEmanuele Bobbio, Martina Caiazza, Emanuele Monda, et al.
Clinical Genetics|August 4, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findingsAlessandra D'Amico, Carmen Rosano, Luca Pannone, et al.
Human Mutation|May 15, 2025
Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.
American Journal of Medical Genetics. Part A|April 20, 2017
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experienceClaudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, et al.
Neuromuscular Disorders : NMD|March 28, 2016
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriersMarco Savarese, Olimpia Musumeci, Teresa Giugliano, et al.
Nature Communications|April 13, 2022
Therapeutic homology-independent targeted integration in retina and liverPatrizia Tornabene, Rita Ferla, Manel Llado-Santaeularia, et al.
The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry|October 27, 2017
Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elementsGiulio Piluso, Palmiero Monteleone, Silvana Galderisi, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Pageof 9