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Giulio Piluso

Showing results (11-20 of 90) with videos related to

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European Journal of Human Genetics : EJHG|May 14, 2015
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1Claudia Santoro, Anna Maietta, Teresa Giugliano, et al.
Indian Pediatrics|December 23, 2021
Expanding the Neuroradiological Phenotype of 18q Deletion SyndromeMaria Francesca Gicchino, Giulio Piluso, Teresa Giugliano, et al.
Human Mutation|November 13, 2007
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2HValentina Saccone, Michela Palmieri, Luigia Passamano, et al.
Human Mutation|December 8, 2004
Molecular and muscle pathology in a series of caveolinopathy patientsLuigi Fulizio, Anna Chiara Nascimbeni, Marina Fanin, et al.
American Journal of Medical Genetics. Part A|December 29, 2017
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicismTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.
Frontiers in Genetics|December 8, 2018
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil DeformityDomenico Roberti, Renata Conforti, Teresa Giugliano, et al.
Biogerontology|November 24, 2007
Lack of replication of genetic associations with human longevityValeria Novelli, Chiara Viviani Anselmi, Roberta Roncarati, et al.
Neuroradiology|January 22, 2021
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological findingAlessandra D'Amico, Teresa Perillo, Carmela Russo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 23, 2019
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2Claudia Santoro, Federica Palladino, Pia Bernardo, et al.
European Journal of Medical Genetics|October 8, 2021
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literatureClaudia Santoro, Giuseppina Gaudino, Annalaura Torella, et al.
Pageof 9

Showing results (11-20 of 90) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|May 14, 2015
Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1Claudia Santoro, Anna Maietta, Teresa Giugliano, et al.
Indian Pediatrics|December 23, 2021
Expanding the Neuroradiological Phenotype of 18q Deletion SyndromeMaria Francesca Gicchino, Giulio Piluso, Teresa Giugliano, et al.
Human Mutation|November 13, 2007
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2HValentina Saccone, Michela Palmieri, Luigia Passamano, et al.
Human Mutation|December 8, 2004
Molecular and muscle pathology in a series of caveolinopathy patientsLuigi Fulizio, Anna Chiara Nascimbeni, Marina Fanin, et al.
American Journal of Medical Genetics. Part A|December 29, 2017
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicismTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.
Frontiers in Genetics|December 8, 2018
A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil DeformityDomenico Roberti, Renata Conforti, Teresa Giugliano, et al.
Biogerontology|November 24, 2007
Lack of replication of genetic associations with human longevityValeria Novelli, Chiara Viviani Anselmi, Roberta Roncarati, et al.
Neuroradiology|January 22, 2021
Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological findingAlessandra D'Amico, Teresa Perillo, Carmela Russo, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 23, 2019
Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2Claudia Santoro, Federica Palladino, Pia Bernardo, et al.
European Journal of Medical Genetics|October 8, 2021
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literatureClaudia Santoro, Giuseppina Gaudino, Annalaura Torella, et al.
Pageof 9