Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Novel LDLR variant"'
Autor:
Athar, Mohammad1,2 (AUTHOR) athar80@gmail.com, Toonsi, Mawaddah3 (AUTHOR), Abduljaleel, Zainularifeen1,2 (AUTHOR), Bouazzaoui, Abdellatif1,2 (AUTHOR), Bogari, Neda M.1 (AUTHOR), Dannoun, Anas1 (AUTHOR), Al-Allaf, Faisal A.1 (AUTHOR)
Publikováno v:
Life (2075-1729). Jul2023, Vol. 13 Issue 7, p1542. 16p.
Autor:
Mohammad Athar, Mawaddah Toonsi, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Neda M. Bogari, Anas Dannoun, Faisal A. Al-Allaf
Publikováno v:
Life, Vol 13, Iss 7, p 1542 (2023)
Background: Familial Hypercholesterolemia (FH) is a hereditary condition that causes a rise in blood cholesterol throughout a person’s life. FH can result in myocardial infarction and even sudden death if not treated. FH is thought to be caused mai
Externí odkaz:
https://doaj.org/article/07372f2235cf4103b06a7c00c6c43dd7
Autor:
Simona Moffa, Alessia Perrucci, Elisa De Paolis, Angelo Minucci, Maria Elisabetta Onori, Andrea Giaccari, Alfredo Pontecorvi, Andrea Urbani, Claudio Ricciardi Tenore
Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein-cholesterol levels and it is primarily caused by pathogenic/likely pathogenic variants (P/LPVs) in LDLR, APOB or PCSK9 genes.Next Generation Sequencing (NGS) technolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9823a68ca8f0a46dd63f789f3c5a9055
https://doi.org/10.21203/rs.3.rs-850927/v1
https://doi.org/10.21203/rs.3.rs-850927/v1
Publikováno v:
Drug Week; 8/18/2023, p2346-2346, 1p
Autor:
Angelo Minucci, Claudio Ricciardi Tenore, Elisa De Paolis, Alfredo Pontecorvi, Andrea Urbani, Maria Elisabetta Onori, Simona Moffa, Andrea Giaccari, Alessia Perrucci
Publikováno v:
Molecular biology reports. 49(2)
Background Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein-cholesterol levels and it is primarily caused by pathogenic/likely pathogenic variants (P/LPVs) in LDLR, APOB or PCSK9 genes. Next generation sequencing (N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4cb73dc6a4ac87d08fcf6dc7f60945
https://pubmed.ncbi.nlm.nih.gov/34846648
https://pubmed.ncbi.nlm.nih.gov/34846648
Autor:
Moffa S., Mazzuccato G., de Bonis M., de Paolis E., Onori M. E., Pontecorvi A., Urbani A., Giaccari A., Capoluongo E., Minucci A.
Introduction. Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). Targeted Next Generation Sequencing (NGS) is a new opportunity to expand the exi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::aa43729017ed8287ac16580eeefdcab5
http://hdl.handle.net/11588/829911
http://hdl.handle.net/11588/829911
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Lin, Shaoyi1 (AUTHOR), Hu, Tingting1 (AUTHOR), Wang, Kaihan1 (AUTHOR), Wang, Jiaqi1,2 (AUTHOR), Zhu, Yunyun3 (AUTHOR), Chen, Xiaomin1,2 (AUTHOR) chxmin@hotmail.com
Publikováno v:
Lipids in Health & Disease. 6/20/2023, Vol. 22 Issue 1, p1-10. 10p.
Autor:
Gandhi, Geethanjali Devadoss1,2 (AUTHOR), Aamer, Waleed2 (AUTHOR), Krishnamoorthy, Navaneethakrishnan2 (AUTHOR), Syed, Najeeb3 (AUTHOR), Aliyev, Elbay2 (AUTHOR), Al-Maraghi, Aljazi2 (AUTHOR), Kohailan, Muhammad1,2 (AUTHOR), Alenbawi, Jamil1 (AUTHOR), Elanbari, Mohammed4 (AUTHOR), Mifsud, Borbala1 (AUTHOR), Mokrab, Younes1,5,6 (AUTHOR), Khalil, Charbel Abi6,7 (AUTHOR), Fakhro, Khalid A.1,2,6 (AUTHOR) kfakhro@sidra.org, Qatar Genome Program Research Consortium (QGPRC) (CORPORATE AUTHOR)
Publikováno v:
Journal of Translational Medicine. 11/3/2022, Vol. 20, p1-14. 14p.