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Carola Giacobbe

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European Journal of Medical Genetics|December 29, 2019
Familial hypercholesterolemia: A complex genetic disease with variable phenotypesMaria Donata Di Taranto, Carola Giacobbe, Giuliana Fortunato
Molecular Genetics & Genomic Medicine|June 18, 2022
Rare variants in PKHD1 associated with Caroli syndrome: Two case reportsCarola Giacobbe, Fabiola Di Dato, Daniela Palma, et al.
Frontiers in Genetics|March 3, 2022
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic LeukaemiaArcangelo Iannuzzi, Mario Annunziata, Giuliana Fortunato, et al.
Journal of Clinical Lipidology|September 3, 2018
Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemiaMiklós Péterfy, Candy Bedoya, Carola Giacobbe, et al.
Metabolic Brain Disease|May 27, 2016
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reportsMaria Donata Di Taranto, Monica Gelzo, Carola Giacobbe, et al.
Scientific Reports|November 12, 2017
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial HypercholesterolemiaMaria Donata Di Taranto, Asier Benito-Vicente, Carola Giacobbe, et al.
Acta Neurologica Belgica|December 26, 2019
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 geneMonica Gelzo, Maria Donata Di Taranto, Alvino Bisecco, et al.
European Journal of Preventive Cardiology|March 30, 2017
Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemiaPaolo Rubba, Marco Gentile, Gennaro Marotta, et al.
Journal of Clinical Medicine|January 18, 2020
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial HypercholesterolemiaMaria Donata Di Taranto, Carola Giacobbe, Alessio Buonaiuto, et al.
Clinical Chemistry and Laboratory Medicine|February 3, 2019
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratioMaria Donata Di Taranto, Renato de Falco, Ornella Guardamagna, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
European Journal of Medical Genetics|December 29, 2019
Familial hypercholesterolemia: A complex genetic disease with variable phenotypesMaria Donata Di Taranto, Carola Giacobbe, Giuliana Fortunato
Molecular Genetics & Genomic Medicine|June 18, 2022
Rare variants in PKHD1 associated with Caroli syndrome: Two case reportsCarola Giacobbe, Fabiola Di Dato, Daniela Palma, et al.
Frontiers in Genetics|March 3, 2022
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic LeukaemiaArcangelo Iannuzzi, Mario Annunziata, Giuliana Fortunato, et al.
Journal of Clinical Lipidology|September 3, 2018
Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemiaMiklós Péterfy, Candy Bedoya, Carola Giacobbe, et al.
Metabolic Brain Disease|May 27, 2016
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reportsMaria Donata Di Taranto, Monica Gelzo, Carola Giacobbe, et al.
Scientific Reports|November 12, 2017
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial HypercholesterolemiaMaria Donata Di Taranto, Asier Benito-Vicente, Carola Giacobbe, et al.
Acta Neurologica Belgica|December 26, 2019
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 geneMonica Gelzo, Maria Donata Di Taranto, Alvino Bisecco, et al.
European Journal of Preventive Cardiology|March 30, 2017
Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemiaPaolo Rubba, Marco Gentile, Gennaro Marotta, et al.
Journal of Clinical Medicine|January 18, 2020
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial HypercholesterolemiaMaria Donata Di Taranto, Carola Giacobbe, Alessio Buonaiuto, et al.
Clinical Chemistry and Laboratory Medicine|February 3, 2019
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratioMaria Donata Di Taranto, Renato de Falco, Ornella Guardamagna, et al.
Pageof 2