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Emanuele Agolini

Showing results (11-20 of 136) with videos related to

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International Journal of Pediatric Otorhinolaryngology|December 2, 2019
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothersSara Giannantonio, Emanuele Agolini, Alessandro Scorpecci, et al.
Genes|February 25, 2023
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual DiagnosisAnna Paola Capra, Maria Angela La Rosa, Sara Briguori, et al.
Medicine|February 22, 2020
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature reviewDario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, et al.
Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Psychiatric Genetics|February 7, 2019
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 geneGiulia Pascolini, Silvia Majore, Michele Valiante, et al.
European Journal of Human Genetics : EJHG|April 4, 2020
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeDiego Martinelli, Giuseppe Fiermonte, Johannes Häberle, et al.
BMC Pediatrics|April 25, 2024
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1AFabio Sippelli, Silvana Briuglia, Chiara Ferraloro, et al.
Genes|November 29, 2019
Novel <i>TNXB</i> Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeLucia Micale, Vito Guarnieri, Bartolomeo Augello, et al.
Pediatric Reports|March 24, 2022
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature ReviewMaria Anna Siano, Ilaria De Maggio, Roberta Petillo, et al.
World Journal of Hepatology|March 19, 2020
Nonsense variant of <i>ATP8B1</i> gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literatureMariano Piazzolla, Nicola Castellaneta, Antonio Novelli, et al.
Pageof 14

Showing results (11-20 of 136) with videos related to

Sort By:
Pageof 14
International Journal of Pediatric Otorhinolaryngology|December 2, 2019
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothersSara Giannantonio, Emanuele Agolini, Alessandro Scorpecci, et al.
Genes|February 25, 2023
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual DiagnosisAnna Paola Capra, Maria Angela La Rosa, Sara Briguori, et al.
Medicine|February 22, 2020
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature reviewDario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, et al.
Genes|January 26, 2024
First Case of a Dominant De Novo <i>SEC23A</i> Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature ReviewElia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, et al.
Psychiatric Genetics|February 7, 2019
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 geneGiulia Pascolini, Silvia Majore, Michele Valiante, et al.
European Journal of Human Genetics : EJHG|April 4, 2020
CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeDiego Martinelli, Giuseppe Fiermonte, Johannes Häberle, et al.
BMC Pediatrics|April 25, 2024
Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1AFabio Sippelli, Silvana Briuglia, Chiara Ferraloro, et al.
Genes|November 29, 2019
Novel <i>TNXB</i> Variants in Two Italian Patients with Classical-Like Ehlers-Danlos SyndromeLucia Micale, Vito Guarnieri, Bartolomeo Augello, et al.
Pediatric Reports|March 24, 2022
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature ReviewMaria Anna Siano, Ilaria De Maggio, Roberta Petillo, et al.
World Journal of Hepatology|March 19, 2020
Nonsense variant of <i>ATP8B1</i> gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literatureMariano Piazzolla, Nicola Castellaneta, Antonio Novelli, et al.
Pageof 14