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Giulio Piluso

Showing results (41-50 of 90) with videos related to

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American Journal of Human Genetics|February 10, 2009
A missense mutation in CASK causes FG syndrome in an Italian familyGiulio Piluso, Francesca D'Amico, Valentina Saccone, et al.
BMC Neurology|September 3, 2020
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case reportClaudia Santoro, Teresa Giugliano, Pia Bernardo, et al.
Plos One|July 13, 2018
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1Claudia Santoro, Teresa Giugliano, Markus Kraemer, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
Neuromuscular Disorders : NMD|August 17, 2010
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutationGiorgio Tasca, Massimiliano Mirabella, Aldobrando Broccolini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2017
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright ObjectsGaetano Terrone, Giuseppina Vitiello, Rita Genesio, et al.
Frontiers in Medicine|June 28, 2021
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological SignsVincenzo Piccolo, Teresa Russo, Daniela Di Pinto, et al.
Human Molecular Genetics|September 6, 2011
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complexAlessio Lancioni, Ida Luisa Rotundo, Yvonne Monique Kobayashi, et al.
Journal of Cellular Physiology|April 20, 2011
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell linesCiro Abbondanza, Caterina De Rosa, Andrea D'Arcangelo, et al.
Orphanet Journal of Rare Diseases|January 13, 2026
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational studyClaudia Santoro, Gabriele Martin, Gianluca Conza, et al.
Pageof 9

Showing results (41-50 of 90) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|February 10, 2009
A missense mutation in CASK causes FG syndrome in an Italian familyGiulio Piluso, Francesca D'Amico, Valentina Saccone, et al.
BMC Neurology|September 3, 2020
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case reportClaudia Santoro, Teresa Giugliano, Pia Bernardo, et al.
Plos One|July 13, 2018
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1Claudia Santoro, Teresa Giugliano, Markus Kraemer, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutationsMafalda Cacciottolo, Gelsomina Numitone, Stefania Aurino, et al.
Neuromuscular Disorders : NMD|August 17, 2010
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutationGiorgio Tasca, Massimiliano Mirabella, Aldobrando Broccolini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 30, 2017
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright ObjectsGaetano Terrone, Giuseppina Vitiello, Rita Genesio, et al.
Frontiers in Medicine|June 28, 2021
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological SignsVincenzo Piccolo, Teresa Russo, Daniela Di Pinto, et al.
Human Molecular Genetics|September 6, 2011
Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complexAlessio Lancioni, Ida Luisa Rotundo, Yvonne Monique Kobayashi, et al.
Journal of Cellular Physiology|April 20, 2011
Identification of a functional estrogen-responsive enhancer element in the promoter 2 of PRDM2 gene in breast cancer cell linesCiro Abbondanza, Caterina De Rosa, Andrea D'Arcangelo, et al.
Orphanet Journal of Rare Diseases|January 13, 2026
Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational studyClaudia Santoro, Gabriele Martin, Gianluca Conza, et al.
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