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Manuela Morleo

Showing results (21-30 of 47) with videos related to

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The Journal of Clinical Investigation|April 3, 2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediatorsYangfan P Liu, I-Chun Tsai, Manuela Morleo, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Frontiers in Pharmacology|January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayXianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo, Tiziano Pramparo, Lucia Perone, et al.
American Journal of Medical Genetics. Part A|November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from ItalyDaniela Pasquali, Annalaura Torella, Anna Grandone, et al.
The EMBO Journal|May 2, 2021
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylationEmanuela Senatore, Francesco Chiuso, Laura Rinaldi, et al.
Cell Reports|November 9, 2022
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanomaPietro Carotenuto, Alessia Romano, Anna Barbato, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
American Journal of Human Genetics|April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseAmy G Jones, Matilde Aquilino, Rory J Tinker, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Pageof 5

Showing results (21-30 of 47) with videos related to

Sort By:
Pageof 5
The Journal of Clinical Investigation|April 3, 2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediatorsYangfan P Liu, I-Chun Tsai, Manuela Morleo, et al.
European Journal of Human Genetics : EJHG|April 21, 2026
Revisiting LSDMCA: male lethality escape and genotype-phenotype correlationsAlfonso Manuel D'Alessio, Alessia Indrieri, Giuseppina Vitiello, et al.
Frontiers in Pharmacology|January 4, 2021
Identification of an Identical <i>de Novo</i> SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental DelayXianru Jiao, Manuela Morleo, Vincenzo Nigro, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 casesManuela Morleo, Tiziano Pramparo, Lucia Perone, et al.
American Journal of Medical Genetics. Part A|November 24, 2022
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from ItalyDaniela Pasquali, Annalaura Torella, Anna Grandone, et al.
The EMBO Journal|May 2, 2021
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylationEmanuela Senatore, Francesco Chiuso, Laura Rinaldi, et al.
Cell Reports|November 9, 2022
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanomaPietro Carotenuto, Alessia Romano, Anna Barbato, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
American Journal of Human Genetics|April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseAmy G Jones, Matilde Aquilino, Rory J Tinker, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
Pageof 5