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Livia Garavelli

Showing results (81-90 of 156) with videos related to

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Human Mutation|June 20, 2003
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaAlessandra Tessa, Sergio Salvi, Carlo Casali, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Gene|January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantClaudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Genes|August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> GenesIrene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Genes, Chromosomes & Cancer|August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type IMatteo Riva, Davide Martorana, Vera Uliana, et al.
Pageof 16

Showing results (81-90 of 156) with videos related to

Sort By:
Pageof 16
Human Mutation|June 20, 2003
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaAlessandra Tessa, Sergio Salvi, Carlo Casali, et al.
Sleep Medicine|July 10, 2019
Sleep in Mowat-Wilson Syndrome: a clinical and video-polysomnographic studyVeronica Di Pisa, Federica Provini, Sara Ubertiello, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Frontiers in Neurology|July 31, 2023
Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizuresCarlo Alberto Cesaroni, Marzia Pollazzon, Cecilia Mancini, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Gene|January 20, 2015
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variantClaudio Graziano, Anita Wischmeijer, Tommaso Pippucci, et al.
Genes|July 2, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the LiteratureGabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, et al.
Genes|August 26, 2023
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <i>DLX5/6</i> GenesIrene Ambrosetti, Laura Bernardini, Marzia Pollazzon, et al.
Genes, Chromosomes & Cancer|August 24, 2021
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type IMatteo Riva, Davide Martorana, Vera Uliana, et al.
Pageof 16