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Alessandro De Luca

Showing results (131-140 of 192) with videos related to

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Stem Cell Research|September 8, 2019
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)Eris Bidollari, Giovannina Rotundo, Filomena Altieri, et al.
Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of FallotValentina Guida, Rosangela Ferese, Marcella Rocchetti, et al.
Stem Cell Research|September 11, 2024
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome regionAngela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, et al.
Annali Italiani Di Chirurgia|June 26, 2024
A Nutraceutical Combination of Bromelain and Boswellia Serrata Casperome® in Siben®: Effects on the Postoperative Course of Inguinal Hernioplasty with Mesh at One Year Follow up. A Randomized Multicentric StudyGiuseppe Massimiliano De Luca, Alessandro De Luca, Lucia Franzoso, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritanceAlice Traversa, Enrica Marchionni, Agnese Giovannetti, et al.
Clinical Genetics|August 4, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findingsAlessandra D'Amico, Carmen Rosano, Luca Pannone, et al.
Orphanet Journal of Rare Diseases|December 3, 2021
RASopathies and hemostatic abnormalities: key role of platelet dysfunctionFrancesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
Stem Cell Research|June 10, 2026
Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variantAngela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, et al.
Pageof 20

Showing results (131-140 of 192) with videos related to

Sort By:
Pageof 20
Stem Cell Research|September 8, 2019
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)Eris Bidollari, Giovannina Rotundo, Filomena Altieri, et al.
Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of FallotValentina Guida, Rosangela Ferese, Marcella Rocchetti, et al.
Stem Cell Research|September 11, 2024
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome regionAngela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, et al.
Annali Italiani Di Chirurgia|June 26, 2024
A Nutraceutical Combination of Bromelain and Boswellia Serrata Casperome® in Siben®: Effects on the Postoperative Course of Inguinal Hernioplasty with Mesh at One Year Follow up. A Randomized Multicentric StudyGiuseppe Massimiliano De Luca, Alessandro De Luca, Lucia Franzoso, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritanceAlice Traversa, Enrica Marchionni, Agnese Giovannetti, et al.
Clinical Genetics|August 4, 2021
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findingsAlessandra D'Amico, Carmen Rosano, Luca Pannone, et al.
Orphanet Journal of Rare Diseases|December 3, 2021
RASopathies and hemostatic abnormalities: key role of platelet dysfunctionFrancesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
Stem Cell Research|June 10, 2026
Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variantAngela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, et al.
Pageof 20