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Carmelo Piscopo

Showing results (21-30 of 45) with videos related to

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American Journal of Medical Genetics. Part A|March 3, 2022
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disabilityGiorgia Catino, Silvia Genovese, Silvia Di Tommaso, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature ReviewAlessandro De Falco, Elia Marco Paolo Minale, Camilla Meossi, et al.
Clinical Case Reports|January 28, 2021
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature reviewAurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, et al.
British Journal of Haematology|November 7, 2024
Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overloadFederica Maria Esposito, Vanessa D'Onofrio, Barbara Eleni Rosato, et al.
American Journal of Medical Genetics. Part A|November 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic SpectrumVito Luigi Colona, Maria Gnazzo, Silvia Genovese, et al.
Human Mutation|March 17, 2010
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)Luigia De Falco, Francesca Totaro, Antonella Nai, et al.
American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.
European Journal of Pediatrics|July 7, 2021
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literatureFrancesca Di Candia, Paolo Fontana, Pamela Paglia, et al.
Iscience|March 22, 2021
Common variants at 21q22.3 locus influence <i>MX1</i> and <i>TMPRSS2</i> gene expression and susceptibility to severe COVID-19Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, et al.
Genes|July 2, 2021
The <i>TNFRSF13C</i> H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern ItalyRoberta Russo, Immacolata Andolfo, Vito Alessandro Lasorsa, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|March 3, 2022
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disabilityGiorgia Catino, Silvia Genovese, Silvia Di Tommaso, et al.
American Journal of Medical Genetics. Part A|December 4, 2024
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature ReviewAlessandro De Falco, Elia Marco Paolo Minale, Camilla Meossi, et al.
Clinical Case Reports|January 28, 2021
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature reviewAurora Arghir, Sorina Mihaela Papuc, Andreea-Cristina Tutulan-Cunita, et al.
British Journal of Haematology|November 7, 2024
Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overloadFederica Maria Esposito, Vanessa D'Onofrio, Barbara Eleni Rosato, et al.
American Journal of Medical Genetics. Part A|November 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic SpectrumVito Luigi Colona, Maria Gnazzo, Silvia Genovese, et al.
Human Mutation|March 17, 2010
Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)Luigia De Falco, Francesca Totaro, Antonella Nai, et al.
American Journal of Medical Genetics. Part A|January 14, 2021
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotypeMaria Giovanna Tedesco, Fortunato Lonardo, Caterina Ceccarini, et al.
European Journal of Pediatrics|July 7, 2021
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literatureFrancesca Di Candia, Paolo Fontana, Pamela Paglia, et al.
Iscience|March 22, 2021
Common variants at 21q22.3 locus influence <i>MX1</i> and <i>TMPRSS2</i> gene expression and susceptibility to severe COVID-19Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, et al.
Genes|July 2, 2021
The <i>TNFRSF13C</i> H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern ItalyRoberta Russo, Immacolata Andolfo, Vito Alessandro Lasorsa, et al.
Pageof 5