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Achille Iolascon

Showing results (231-240 of 251) with videos related to

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European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
Human Molecular Genetics|October 4, 2021
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1Antonella Cardinale, Sueva Cantalupo, Vito Alessandro Lasorsa, et al.
Nature Genetics|June 30, 2009
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type IIKlaus Schwarz, Achille Iolascon, Fatima Verissimo, et al.
The Journal of Clinical Investigation|April 6, 2021
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse modelAlessandro Matte, Enrica Federti, Charles Kung, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Medicine|June 7, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri, Alessandro Pecci, Filomena Di Bari, et al.
American Journal of Human Genetics|November 16, 2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany, Nili Avidan, Jean Delaunay, et al.
Human Mutation|December 7, 2007
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related diseaseAlessandro Pecci, Emanuele Panza, Núria Pujol-Moix, et al.
Acta Neuropathologica Communications|April 24, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVeronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, et al.
EMBO Reports|May 30, 2024
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replicationPasqualino de Antonellis, Veronica Ferrucci, Marco Miceli, et al.
Pageof 26

Showing results (231-240 of 251) with videos related to

Sort By:
Pageof 26
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
Human Molecular Genetics|October 4, 2021
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1Antonella Cardinale, Sueva Cantalupo, Vito Alessandro Lasorsa, et al.
Nature Genetics|June 30, 2009
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type IIKlaus Schwarz, Achille Iolascon, Fatima Verissimo, et al.
The Journal of Clinical Investigation|April 6, 2021
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse modelAlessandro Matte, Enrica Federti, Charles Kung, et al.
Blood|March 13, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1Immacolata Andolfo, Seth L Alper, Lucia De Franceschi, et al.
Medicine|June 7, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illnessMarco Seri, Alessandro Pecci, Filomena Di Bari, et al.
American Journal of Human Genetics|November 16, 2002
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Orly Dgany, Nili Avidan, Jean Delaunay, et al.
Human Mutation|December 7, 2007
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related diseaseAlessandro Pecci, Emanuele Panza, Núria Pujol-Moix, et al.
Acta Neuropathologica Communications|April 24, 2025
Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagyVeronica Riccardi, Carlo Fiore Viscomi, Marco Sandri, et al.
EMBO Reports|May 30, 2024
Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replicationPasqualino de Antonellis, Veronica Ferrucci, Marco Miceli, et al.
Pageof 26