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1دورية أكاديمية
المؤلفون: Ripatti, Pietari, Rämö, Joel T, Söderlund, Sanni, Surakka, Ida, Matikainen, Niina, Pirinen, Matti, Pajukanta, Päivi, Sarin, Antti-Pekka, Service, Susan K, Laurila, Pirkka-Pekka, Ehnholm, Christian, Salomaa, Veikko, Wilson, Richard K, Palotie, Aarno, Freimer, Nelson B, Taskinen, Marja-Riitta, Ripatti, Samuli
المصدر: PLoS genetics. 12(5)
مصطلحات موضوعية: Humans, Hyperlipidemia, Familial Combined, Triglycerides, Lipoproteins, LDL, Apolipoproteins B, Adult, Middle Aged, Female, Male, Dyslipidemias, Cholesterol, HDL, Coronary Artery Disease, Genome-Wide Association Study, Cholesterol, HDL, Hyperlipidemia, Familial Combined, Lipoproteins, LDL, Genetics, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3k26n1h8Test
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2دورية أكاديمية
المؤلفون: Di Taranto MD, Staiano A, D'AGOSTINO, MARIA NICOLETTA, D'Angelo A, Bloise E, Morgante A, MAROTTA, GENNARO, Gentile M, RUBBA, PAOLO OSVALDO FEDERICO, FORTUNATO, GIULIANA
المساهمون: DI TARANTO, MARIA DONATA, Staiano, A, D'Agostino, MARIA NICOLETTA, D'Angelo, A, Bloise, E, Morgante, A, Marotta, Gennaro, Gentile, M, Rubba, PAOLO OSVALDO FEDERICO, Fortunato, Giuliana
مصطلحات موضوعية: Apolipoprotein A-V (APOA5), Familial combined hyperlipidemia, Single nucleotide polymorphism (SNP), Upstream stimulatory factor 1 (USF1), Adult, Apolipoprotein A-V, Apolipoproteins A, Body Mass Index, Case-Control Studie, European Continental Ancestry Group, Female, Genetic Association Studie, Genetic Predisposition to Disease, Human, Hyperlipidemia, Familial Combined, Italy, Male, Middle Aged, Polymorphism, Single Nucleotide, Triglyceride, Upstream Stimulatory Factor, Molecular Biology, Cell Biology
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000350532300004; volume:29; issue:1; firstpage:19; lastpage:24; numberofpages:6; journal:MOLECULAR AND CELLULAR PROBES; http://hdl.handle.net/11588/595943Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84923359745; http://www.elsevier.com/inca/publications/store/6/2/2/9/1/8/index.httTest
الإتاحة: https://doi.org/10.1016/j.mcp.2014.10.002Test
http://hdl.handle.net/11588/595943Test
http://www.elsevier.com/inca/publications/store/6/2/2/9/1/8/index.httTest -
3
المؤلفون: Ana M. Bea, Estíbaliz Jarauta, Itziar Lamiquiz-Moneo, E. Franco-Marín, I. Gracia-Rubio, Ana Cenarro, Victoria Marco-Benedí, Fernando Civeira
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Zaguán: Repositorio Digital de la Universidad de Zaragoza
Universidad de Zaragoza
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Scientific Reportsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Science, Hyperlipidemia, Familial Combined, Genetic predisposition to disease, 030204 cardiovascular system & hematology, Biology, Monogenic disease, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, ANGPTL3, Humans, 1000 Genomes Project, Gene, Aged, Angiopoietin-Like Protein 3, Aged, 80 and over, Genetics, Multidisciplinary, Disease genetics, Genetic variants, Middle Aged, Lipid Metabolism, Pathogenicity, Familial combined hyperlipidemia, Angiopoietin-like Proteins, 030104 developmental biology, Case-Control Studies, Gain of Function Mutation, Medicine, Female, Large group
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b5668f06891aeda1cbbbe5a1dc2f64cTest
https://doi.org/10.1038/s41598-021-86384-yTest -
4
المؤلفون: Anupamjeet Kaur Sekhon, Bryan Janssen, Dharamjeet Kaur, Fernando Valerio, Mark L. Stevens, Aniruddha Gollapalli, Miguel Sierra-Hoffman
المصدر: The American Journal of Case Reports
مصطلحات موضوعية: Adult, medicine.medical_specialty, PCSK9 Protein, Human, medicine.medical_treatment, Hypercholesterolemia, Hyperlipidemia, Familial Combined, Salvage therapy, Familial hypercholesterolemia, Liver transplantation, Chronic liver disease, digestive system, Gastroenterology, Liver Function Tests, Internal medicine, medicine, Humans, medicine.diagnostic_test, business.industry, Fatty liver, nutritional and metabolic diseases, Articles, General Medicine, medicine.disease, digestive system diseases, Non-Alcoholic Fatty Liver Disease, Fatty Liver, Liver, Liver biopsy, Female, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Proprotein Convertase 9, Steatohepatitis, Liver function tests, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::458a43934c236f2bebd767be5eb63575Test
https://doi.org/10.12659/ajcr.932961Test -
5
المؤلفون: Cindy Bredefeld, Noel Peretti, M. Mahmood Hussain, Mathilde Di Filippo, Ettie Granot, Charlotte Cuerq, Pierre Poinsot, Philippe Moulin, Sybil Charrière, Mitchell Brin, Richard J. Deckelbaum, Dennis D. Black
المساهمون: CarMeN, laboratoire, Long Island University, Brooklyn (LIU Brooklyn), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Medical Advisory Panel: Mathilde Di Filippo, Ettie Granot, Charlotte Cuerq, Pierre Poinsot, Philippe Moulin, Sybil Charrière, Mitchell Brin, Richard J Deckelbaum, Dennis D Black
المصدر: Gastroenterology
Gastroenterology, 2020, 160 (6), pp.1912-1916. ⟨10.1053/j.gastro.2020.11.040⟩
Gastroenterology, WB Saunders, 2020, 160 (6), pp.1912-1916. ⟨10.1053/j.gastro.2020.11.040⟩مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Lipoproteins, [SDV]Life Sciences [q-bio], Hyperlipidemia, Familial Combined, 030204 cardiovascular system & hematology, lipids, Hypobetalipoproteinemias, 03 medical and health sciences, 0302 clinical medicine, Malabsorption Syndromes, Pregnancy, medicine, Humans, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, Hepatology, business.industry, Gastroenterology, Abetalipoproteinemia, hypobetalipoproteinemia, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Pregnancy Complications, Hypobetalipoproteinemia, Familial, Apolipoprotein B, Apolipoprotein B-100, Female, Hypobetalipoproteinemia, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74589ff27368e846c7ba02a13e03970aTest
https://pubmed.ncbi.nlm.nih.gov/33275938Test -
6دورية أكاديمية
المؤلفون: Tamara M Pérez Martell, Cristy Darias Domínguez, Gloria Rodríguez Mena, Marisol Negret Hernández
المصدر: Revista Médica Electrónica, Vol 32, Iss 6, p 0 (2010)
مصطلحات موضوعية: HIPERLIPIDEMIA FAMILIAR COMBINADA, XANTOMATOSIS, INFORME DE CASO, HUMANOS, FEMENINO, HYPERLIPIDEMIA FAMILIAL COMBINED, XANTHOMATOSIS, CASE REPORT, HUMANS, FEMALE, Medicine
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7دورية أكاديمية
المؤلفون: Perttilä, Julia, Merikanto, Krista, Naukkarinen, Jussi, Surakka, Ida, Martin, Nicolas W, Tanhuanpää, Kimmo, Grimard, Vinciane, Taskinen, Marja-Riitta, Thiele, Christoph, Salomaa, Veikko, Jula, Antti, Perola, Markus, Virtanen, Ismo, Peltonen, Leena, Olkkonen, Vesa M
المصدر: Journal of molecular medicine, 87 (8
مصطلحات موضوعية: Biochimie, Cell Line, Tumor, Cholesterol, HDL -- blood -- genetics -- metabolism, Female, Finland, Gene Silencing, Hepatocytes -- metabolism, Humans, Hyperlipidemia, Familial Combined -- genetics -- metabolism, Lipid Metabolism, Male, Microtubules -- chemistry, Polymorphism, Single Nucleotide, Receptors, Steroid -- analysis -- genetics -- metabolism, Triglycerides -- blood -- genetics -- metabolism
وصف الملف: 1 full-text file(s): application/pdf
العلاقة: uri/info:doi/10.1007/s00109-009-0490-z; uri/info:pmid/19554302; uri/info:pmcid/PMC2707950; https://dipot.ulb.ac.be/dspace/bitstream/2013/109814/4/doi_89984.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/109814Test
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8دورية أكاديمية
المؤلفون: D'Erasmo, Laura, Cefalu', Angelo Baldassare, Noto, Davide, Giammanco, Antonina, Averna, Maurizio, Pintus, Paolo, Medde, Paolo, Vigna, Giovanni Battista, Sirtori, Cesare, Calabresi, Laura, Pavanello, Chiara, Bucci, Marco, Sabbà , Carlo, Suppressa, Patrizia, Natale, Francesco, Calabrò, Paolo, Sampietro, Tiziana, Bigazzi, Federico, Sbrana, Francesco, Bonomo, Katia, Sileo, Fulvio, Arca, Marcello
المساهمون: D'Erasmo, L., Cefalu', A., Noto, D., Giammanco, A., Averna, M., Pintus, P., Medde, P., Vigna, G., Sirtori, C., Calabresi, L., Pavanello, C., Bucci, M., Sabbã , C., Suppressa, P., Natale, F., Calabrã², P., Sampietro, T., Bigazzi, F., Sbrana, F., Bonomo, K., Sileo, F., Arca, M.
مصطلحات موضوعية: Cholesterol-lowering effect, Clinical practice, Genetic, Lomitapide, Severe hypercholesterolemia, Adult, Aged, 80 and over, Anticholesteremic Agent, Benzimidazole, Female, Homozygote, Human, Hyperlipidemia, Familial Combined, Hyperlipoproteinemia Type II, Italy, Male, Middle Aged, Retrospective Studie, Pharmacology (medical), Settore MED/09 - Medicina Interna
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28432645; info:eu-repo/semantics/altIdentifier/wos/WOS:000401506300013; volume:34; issue:5; firstpage:1200; lastpage:1210; numberofpages:11; journal:ADVANCES IN THERAPY; http://hdl.handle.net/10447/247990Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026890247; http://www.springer.com/springer+healthcare/journal/12325Test
الإتاحة: https://doi.org/10.1007/s12325-017-0531-xTest
http://hdl.handle.net/10447/247990Test
http://www.springer.com/springer+healthcare/journal/12325Test -
9دورية أكاديمية
المؤلفون: Dâ€TMerasmo, Laura, Cefalã1, Angelo Baldassare, Noto, Davide, Giammanco, Antonina, Averna, Maurizio, Pintus, Paolo, Medde, Paolo, Vigna, Giovanni Battista, Sirtori, Cesare, Calabresi, Laura, Pavanello, Chiara, BUCCI, Marco, Sabbã , Carlo, Suppressa, Patrizia, Natale, Francesco, Calabrã2, Paolo, Sampietro, Tiziana, Bigazzi, Federico, Sbrana, Francesco, Bonomo, Katia, Sileo, Fulvio, Arca, Marcello
المساهمون: Dâ€TMerasmo, Laura, Cefalã1, Angelo Baldassare, Noto, Davide, Giammanco, Antonina, Averna, Maurizio, Pintus, Paolo, Medde, Paolo, Vigna, Giovanni Battista, Sirtori, Cesare, Calabresi, Laura, Pavanello, Chiara, Bucci, Marco, Sabbã , Carlo, Suppressa, Patrizia, Natale, Francesco, Calabrã2, Paolo, Sampietro, Tiziana, Bigazzi, Federico, Sbrana, Francesco, Bonomo, Katia, Sileo, Fulvio, Arca, Marcello
مصطلحات موضوعية: Cholesterol-lowering effect, Clinical practice, Genetic, Lomitapide, Severe hypercholesterolemia, Adult, Aged, 80 and over, Anticholesteremic Agent, Benzimidazole, Female, Homozygote, Human, Hyperlipidemia, Familial Combined, Hyperlipoproteinemia Type II, Italy, Male, Middle Aged, Retrospective Studie, Medicine (all), Pharmacology (medical)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28432645; info:eu-repo/semantics/altIdentifier/wos/WOS:000401506300013; volume:34; issue:5; firstpage:1200; lastpage:1210; numberofpages:11; journal:ADVANCES IN THERAPY; http://hdl.handle.net/11564/686187Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026890247; http://www.springer.com/springer+healthcare/journal/12325Test
الإتاحة: https://doi.org/10.1007/s12325-017-0531-xTest
http://hdl.handle.net/11564/686187Test
http://www.springer.com/springer+healthcare/journal/12325Test -
10دورية أكاديمية
المؤلفون: D’Erasmo, Laura, Cefalù, Angelo Baldassare, Noto, Davide, Giammanco, Antonina, Averna, Maurizio, Pintus, Paolo, Medde, Paolo, Vigna, Giovanni Battista, Sirtori, Cesare, CALABRESI, LAURA, Pavanello, Chiara, Bucci, Marco, Sabbà, Carlo, Suppressa, Patrizia, Natale, Francesco, Calabrò, Paolo, Sampietro, Tiziana, Bigazzi, Federico, Sbrana, Francesco, Bonomo, Katia, Sileo, Fulvio, Arca, Marcello
المساهمون: D’Erasmo, Laura, Cefalù, Angelo Baldassare, Noto, Davide, Giammanco, Antonina, Averna, Maurizio, Pintus, Paolo, Medde, Paolo, Vigna, Giovanni Battista, Sirtori, Cesare, Calabresi, Laura, Pavanello, Chiara, Bucci, Marco, Sabbà, Carlo, Suppressa, Patrizia, Natale, Francesco, Calabrò, Paolo, Sampietro, Tiziana, Bigazzi, Federico, Sbrana, Francesco, Bonomo, Katia, Sileo, Fulvio, Arca, Marcello
مصطلحات موضوعية: Cholesterol-lowering effect, Clinical practice, Genetic, Lomitapide, Severe hypercholesterolemia, Adult, Aged, 80 and over, Anticholesteremic Agent, Benzimidazole, Female, Homozygote, Human, Hyperlipidemia, Familial Combined, Hyperlipoproteinemia Type II, Italy, Male, Middle Aged, Retrospective Studie, Pharmacology (medical)
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28432645; volume:34; issue:5; firstpage:1200; lastpage:1210; numberofpages:11; journal:ADVANCES IN THERAPY; http://hdl.handle.net/11586/211145Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026890247; http://www.springer.com/springer+healthcare/journal/12325Test
الإتاحة: https://doi.org/10.1007/s12325-017-0531-xTest
http://hdl.handle.net/11586/211145Test
http://www.springer.com/springer+healthcare/journal/12325Test