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Garavelli

Showing results (501-510 of 609) with videos related to

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Italian Journal of Pediatrics|March 11, 2018
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomaliesI Maini, I Ivanovski, O Djuric, et al.
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.
Proteomics|August 10, 2006
Proteomics and Beyond: a report on the 3rd Annual Spring Workshop of the HUPO-PSI 21-23 April 2006, San Francisco, CA, USASandra Orchard, Rolf Apweiler, Robert Barkovich, 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.
Nucleic Acids Research|January 11, 2000
Protein Information Resource: a community resource for expert annotation of protein dataW C Barker, J S Garavelli, Z Hou, et al.
International Journal of Molecular Sciences|January 17, 2020
Blood Co-Circulating Extracellular microRNAs and Immune Cell Subsets Associate with Type 1 Diabetes SeveritySilvia Garavelli, Sara Bruzzaniti, Elena Tagliabue, 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.
Pageof 61

Showing results (501-510 of 609) with videos related to

Sort By:
Pageof 61
Italian Journal of Pediatrics|March 11, 2018
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomaliesI Maini, I Ivanovski, O Djuric, et al.
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.
Proteomics|August 10, 2006
Proteomics and Beyond: a report on the 3rd Annual Spring Workshop of the HUPO-PSI 21-23 April 2006, San Francisco, CA, USASandra Orchard, Rolf Apweiler, Robert Barkovich, 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.
Nucleic Acids Research|January 11, 2000
Protein Information Resource: a community resource for expert annotation of protein dataW C Barker, J S Garavelli, Z Hou, et al.
International Journal of Molecular Sciences|January 17, 2020
Blood Co-Circulating Extracellular microRNAs and Immune Cell Subsets Associate with Type 1 Diabetes SeveritySilvia Garavelli, Sara Bruzzaniti, Elena Tagliabue, 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.
Pageof 61