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1 . Academic Journal
Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome
저자
by
Martina Ferrandino
;
Giovanna Cardiero
;
Fabiola Di Dato
;
Ylenia Cerrato
;
Luigi Vitagliano
, et al.
소스
Genes, Vol 15, Iss 8, p 1034 (2024)
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7 . Academic Journal
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia
저자
by
Giovanna Cardiero
;
Martina Ferrandino
;
Ilenia Lorenza Calcaterra
;
Gabriella Iannuzzo
;
Matteo Nicola Dario Di Minno
, et al.
소스
Genes, Vol 15, Iss 4, p 462 (2024)
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7 . Academic Journal
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey
저자
by
Laura D’Erasmo
;
Antonio Gallo
;
Angelo Baldassare Cefalù
;
Alessia Di Costanzo
;
Samir Saheb
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
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7 . Academic Journal
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports
저자
by
Carola Giacobbe
;
Fabiola Di Dato
;
Daniela Palma
;
Michele Amitrano
;
Raffaele Iorio
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
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7 . Academic Journal
Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
저자
by
Laura D’Erasmo
;
Antonina Giammanco
;
Patrizia Suppressa
;
Chiara Pavanello
;
Gabriella Iannuzzo
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group
저자
by
Marta Gazzotti
;
Manuela Casula
;
Stefano Bertolini
;
Maria Elena Capra
;
Elena Olmastroni
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis
저자
by
Maria Donata Di Taranto
;
Giuliana Fortunato
.
소스
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3224 (2023)
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4 . Academic Journal
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia
저자
by
Arcangelo Iannuzzi
;
Mario Annunziata
;
Giuliana Fortunato
;
Carola Giacobbe
;
Daniela Palma
, et al.
소스
Frontiers in Genetics, Vol 13 (2022)
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7 . Academic Journal
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study
저자
by
Monica Gelzo
;
Maria Donata Di Taranto
;
Concetta Sica
;
Antonio Boscia
;
Francesco Papagni
, et al.
소스
Lipids in Health and Disease, Vol 18, Iss 1, Pp 1-6 (2019)
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7 . Academic Journal
Calprotectin Levels and Neutrophil Count Are Prognostic Markers of Mortality in COVID-19 Patients
저자
by
Giovanna Cardiero
;
Daniela Palma
;
Martina Vano
;
Claudia Anastasio
;
Biagio Pinchera
, et al.
소스
Diagnostics, Vol 12, Iss 10, p 2554 (2022)
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