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1دورية أكاديمية
المؤلفون: Ming-Ming Liu, Jia Peng, Yuan-Lin Guo, Cheng-Gang Zhu, Na-Qiong Wu, Rui-Xia Xu, Qian Dong, Jian-Jun Li
المصدر: Journal of Translational Medicine, Vol 19, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Tendon xanthomas, Corneal arcus, LDLR mutation, Heterozygous familial hypercholesterolemia, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-5876Test
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2دورية أكاديمية
المؤلفون: Idrees, Muhammad, Siddiqi, Abdul Rauf, Ajmal, Muhammad, Akram, Muhammad, Khalid, Rana Rehan, Hussain, Alamdar, Qamar, Raheel, Bokhari, Habib
المصدر: Genetics and Molecular Biology. September 2018 41(3)
مصطلحات موضوعية: Paraoxonase-1, hypercholesteremia, arylesterase, LDLR mutation
وصف الملف: text/html
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3دورية أكاديمية
المؤلفون: Ming-Ming Liu (1714156), Jia Peng (508247), Yuan-Lin Guo (303471), Cheng-Gang Zhu (303467), Na-Qiong Wu (303474), Rui-Xia Xu (531243), Qian Dong (414788), Jian-Jun Li (8670549)
مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Neuroscience, Immunology, Cancer, Mental Health, Infectious Diseases, Virology, Computational Biology, Tendon xanthomas, Corneal arcus, LDLR mutation, Heterozygous familial hypercholesterolemia
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4دورية أكاديمية
المؤلفون: Muhammad Idrees, Abdul Rauf Siddiq, Muhammad Ajmal, Muhammad Akram, Rana Rehan Khalid, Alamdar Hussain, Raheel Qamar, Habib Bokhari
المصدر: Genetics and Molecular Biology, Vol 41, Iss 3, Pp 570-577 (2018)
مصطلحات موضوعية: Paraoxonase-1, hypercholesteremia, arylesterase, LDLR mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400570&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test
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5دورية أكاديمية
المؤلفون: Durst, R, Ibe, UK, Shpitzen, S, Schurr, D, Eliav, O, Futema, M, Whittall, R, Szalat, A, Meiner, V, Knobler, H, Gavish, D, Henkin, Y, Ellis, A, Rubinstein, A, Harats, D, Bitzur, R, Hershkovitz, B, Humphries, SE, Leitersdorf, E
المصدر: Atherosclerosis , 257 pp. 55-63. (2017)
مصطلحات موضوعية: Familial hypercholesterolemia, Hyperlipidemia, LDL receptor, LDLR mutation
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1539806/1/Humphries_FH%20in%20Israel%20revisited%20-2nd%20revision%20Steve.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1539806Test/
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6دورية أكاديمية
المؤلفون: Sharifi, M, Walus-Miarka, M, Idzior-Waluś, B, Malecki, MT, Sanak, M, Whittall, R, Li, KW, Futema, M, Humphries, SE
المصدر: Metabolism , 65 (3) pp. 48-53. (2016)
مصطلحات موضوعية: Familial hypercholesterolemia, LDL-C gene score, LDLR mutation
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1476435/1/1-s2.0-S0026049515003108-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1476435Test/
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7
المؤلفون: Dudley Jt, Bobe, Johnson Kw
المصدر: Cureus
مصطلحات موضوعية: high cholesterol, 0301 basic medicine, Coronary angiography, medicine.medical_specialty, Electron Beam Computed Tomography, genetic resilience, Cardiology, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, High cholesterol, 03 medical and health sciences, 0302 clinical medicine, cardiovascular disease, Internal medicine, Genetics, Internal Medicine, medicine, resilience, positive outlier, Lipoprotein cholesterol, ldlr mutation, incomplete penetrance, familial hypercholesterolemia, business.industry, General Engineering, nutritional and metabolic diseases, medicine.disease, Penetrance, coronary artery calcification, 030104 developmental biology, Coronary artery calcification, lipids (amino acids, peptides, and proteins), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d473add08504c6f4f2b1cc1a265c5f0Test
https://doi.org/10.7759/cureus.2452Test -
8
المؤلفون: Alamdar Hussain, Raheel Qamar, Habib Bokhari, Muhammad Akram, Rana Rehan Khalid, Muhammad Ajmal, Abdul Rauf Siddiq, Muhammad Idrees
المصدر: Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 41, Iss 3, Pp 570-577 (2018)
Genetics and Molecular Biology v.41 n.3 2018
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 41, Issue: 3, Pages: 570-577, Published: 23 JUL 2018
Genetics and Molecular Biology, Issue: ahead, Published: 23 JUL 2018مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, LDLR mutation, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Pathogenesis, Arylesterase, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, High-density lipoprotein, Internal medicine, Genetics, medicine, Paraoxonase-1, Molecular Biology, biology, arylesterase, Paraoxonase, medicine.disease, PON1, lcsh:Genetics, 030104 developmental biology, Endocrinology, chemistry, Low-density lipoprotein, LDL receptor, biology.protein, lipids (amino acids, peptides, and proteins), Erratum, hypercholesteremia
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8652e9dd7af4a5fb2fdc8a18f6bd57f4Test
https://pubmed.ncbi.nlm.nih.gov/31323079Test -
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المؤلفون: Soufi, Muhidien
المساهمون: Schaefer, Juergen. R. (Prof. Dr)
مصطلحات موضوعية: Medizin, Gesundheit -- Medical sciences, Medicine, LDLR mutation, Lipidstoffwechsel, Familial Defective Apolipoprotein B- 100, LDL-Rezeptor, Arteriosklerose, Familiäre Hypercholesterinämie, Familiär Defektes Apolipoprotein B-100, LDLR-Mutation, Medizin, Gesundheit, Medical sciences, Medicine, DGGE, Familial Hypercholesterolemia, 2008, ddc:610
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0c2abbbba3fbe6d3482ac7ba1ebe3e7Test
http://archiv.ub.uni-marburg.de/diss/z2008/0420Test -
10
المؤلفون: Fernando Civeira, Henrik Jensen, Ana Cenarro, E. Casao, Niels Gregersen, José González-Bonillo, Miguel Pocovi
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1316:1-4
مصطلحات موضوعية: Male, LDLR mutation, Molecular Sequence Data, Familial hypercholesterolemia, Biology, Frameshift mutation, Hyperlipoproteinemia Type II, Exon, medicine, Humans, Amino Acid Sequence, (Spain), Allele, Molecular Biology, Genetics, Base Sequence, Haplotype, Single-strand conformation polymorphism, Exons, medicine.disease, Molecular biology, Pedigree, Oligodeoxyribonucleotides, Receptors, LDL, Spain, Mutation, Mutation (genetic algorithm), SSCP analysis, Molecular Medicine, Female, Heteroduplex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af8eba105a2515a8acc0f3fad7a0e3f4Test
https://doi.org/10.1016/0925-4439Test(96)00006-3