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Emanuele Agolini

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Clinical Genetics|January 30, 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeGiulia Pascolini, Emanuele Agolini, Antonio Novelli, et al.
Genetic Testing and Molecular Biomarkers|November 26, 2009
A nationwide genetic testing survey in Italy, year 2007Bruno Dallapiccola, Isabella Torrente, Emanuele Agolini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2020
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et alAnna Paola Capra, Emanuele Agolini, Maria Angela La Rosa, et al.
European Journal of Human Genetics : EJHG|April 7, 2020
CUGC for lysinuric protein intolerance (LPI)Diego Martinelli, Manuel Schiff, Michela Semeraro, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14Marco Castori, Chiara Fiorillo, Emanuele Agolini, et al.
Clinical Genetics|October 6, 2018
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotypeMattia Gentile, Emanuele Agolini, Dario Cocciadiferro, et al.
Italian Journal of Pediatrics|April 20, 2019
Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung diseaseMaria Giovanna Paglietti, Claudio Cherchi, Federica Porcaro, et al.
American Journal of Medical Genetics. Part A|May 3, 2020
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observationsGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 13, 2020
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplicationGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
Pageof 14

Showing results (1-10 of 135) with videos related to

Sort By:
Pageof 14
Clinical Genetics|January 30, 2020
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotypeGiulia Pascolini, Emanuele Agolini, Antonio Novelli, et al.
Genetic Testing and Molecular Biomarkers|November 26, 2009
A nationwide genetic testing survey in Italy, year 2007Bruno Dallapiccola, Isabella Torrente, Emanuele Agolini, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2020
Correspondence on "Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies" by Fountain et alAnna Paola Capra, Emanuele Agolini, Maria Angela La Rosa, et al.
European Journal of Human Genetics : EJHG|April 7, 2020
CUGC for lysinuric protein intolerance (LPI)Diego Martinelli, Manuel Schiff, Michela Semeraro, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14Marco Castori, Chiara Fiorillo, Emanuele Agolini, et al.
Clinical Genetics|October 6, 2018
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotypeMattia Gentile, Emanuele Agolini, Dario Cocciadiferro, et al.
Italian Journal of Pediatrics|April 20, 2019
Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung diseaseMaria Giovanna Paglietti, Claudio Cherchi, Federica Porcaro, et al.
American Journal of Medical Genetics. Part A|May 3, 2020
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observationsGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 13, 2020
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplicationGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
Pageof 14