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Livia Garavelli

Showing results (21-30 of 156) with videos related to

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Italian Journal of Pediatrics|August 22, 2025
An uncommon case of neonatal asphyxia associated with infantile-onset Pompe diseaseFrancesco Leo, Luca Barchi, Giulia Russo, et al.
BMC Medical Genomics|March 5, 2024
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disordersAnna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, et al.
Molecular Syndromology|December 7, 2023
Expanding Phenotype of <i>SYT1</i>-Related Neurodevelopmental Disorder: Case Report and Literature ReviewCarlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, et al.
American Journal of Medical Genetics. Part A|April 2, 2004
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndromeFiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 geneMassimiliano Cecconi, Francesca Forzano, Livia Garavelli, et al.
Clinical Chemistry and Laboratory Medicine|January 8, 2015
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiencyNicola Volpi, Giovanni V Coppa, Lucia Zampini, et al.
European Journal of Human Genetics : EJHG|October 16, 2003
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsAlfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, et al.
European Journal of Pediatrics|August 27, 2016
Natural history and life-threatening complications in Myhre syndrome and review of the literatureLivia Garavelli, Ilenia Maini, Federica Baccilieri, et al.
Journal of Neuromuscular Diseases|December 25, 2023
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, et al.
Brain & Development|June 4, 2023
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case reportJessica Rossi, Marco Russo, Giuseppe Gobbi, et al.
Pageof 16

Showing results (21-30 of 156) with videos related to

Sort By:
Pageof 16
Italian Journal of Pediatrics|August 22, 2025
An uncommon case of neonatal asphyxia associated with infantile-onset Pompe diseaseFrancesco Leo, Luca Barchi, Giulia Russo, et al.
BMC Medical Genomics|March 5, 2024
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disordersAnna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, et al.
Molecular Syndromology|December 7, 2023
Expanding Phenotype of <i>SYT1</i>-Related Neurodevelopmental Disorder: Case Report and Literature ReviewCarlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, et al.
American Journal of Medical Genetics. Part A|April 2, 2004
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndromeFiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, et al.
American Journal of Medical Genetics. Part A|November 14, 2008
Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 geneMassimiliano Cecconi, Francesca Forzano, Livia Garavelli, et al.
Clinical Chemistry and Laboratory Medicine|January 8, 2015
Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiencyNicola Volpi, Giovanni V Coppa, Lucia Zampini, et al.
European Journal of Human Genetics : EJHG|October 16, 2003
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsAlfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, et al.
European Journal of Pediatrics|August 27, 2016
Natural history and life-threatening complications in Myhre syndrome and review of the literatureLivia Garavelli, Ilenia Maini, Federica Baccilieri, et al.
Journal of Neuromuscular Diseases|December 25, 2023
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, et al.
Brain & Development|June 4, 2023
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case reportJessica Rossi, Marco Russo, Giuseppe Gobbi, et al.
Pageof 16