-
1دورية أكاديمية
المؤلفون: T. Bruin, S. Tuzgöl, W.J. Mulder, A.E. van den Ende, H. Jansen, M.R. Hayden, J.J. Kastelein
المصدر: Journal of Lipid Research, Vol 35, Iss 3, Pp 438-445 (1994)
مصطلحات موضوعية: Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520411885; https://doaj.org/toc/0022-2275
-
2
المؤلفون: D. W. Erkelens, S. M. Bijvoet, T. Bruin, Michael R. Hayden, Howard E. Henderson, John J.P. Kastelein, M. A. M. M. Mannens
المساهمون: Other departments
المصدر: American journal of medical genetics, 78(4), 313-316. Wiley-Liss Inc.
مصطلحات موضوعية: Genetics, Mutation, Lipoprotein lipase, Biology, medicine.disease_cause, Compound heterozygosity, Loss of heterozygosity, Genotype, medicine, lipids (amino acids, peptides, and proteins), Restriction fragment length polymorphism, Allele, Gene, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956979910176c31091c5d8604cbab07c
https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m -
3
المؤلفون: Eric Boerwinkle, Michael R. Hayden, Michael D. Hallman, P.W.A. Reymer, John J.P. Kastelein, Albert V.G. Bruschke, Björn E. Groenemeijer, E. Gagne, T. Bruin, Hans Jansen, Jan Albert Kuivenhoven, K.I. Lie
المصدر: Circulation. 95:2628-2635
مصطلحات موضوعية: medicine.medical_specialty, Lipoprotein lipase, Triglyceride, Cholesterol, business.industry, Hydroxymethylglutaryl-CoA reductase, chemistry.chemical_compound, Endocrinology, chemistry, Physiology (medical), Internal medicine, medicine, Lipolysis, lipids (amino acids, peptides, and proteins), Hepatic lipase, Cardiology and Cardiovascular Medicine, business, Pravastatin, medicine.drug, Lipoprotein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::353508abdaaeb888f3d78c423cdcfe02
https://doi.org/10.1161/01.cir.95.12.2628 -
4
المؤلفون: Ewa Ehrenborg, T. Bruin, Michael R. Hayden, Pascale Benlian, Jean Luc De Gennes, John J.P. Kastelein, Jean Furioli, L. Foubert
المساهمون: Other departments, Faculteit der Geneeskunde
المصدر: Karolinska Institutet
Human mutation, 10(3), 179-185. Wiley-Liss Inc.
Human Mutation, 10, 179-185. Wiley-Liss Inc.مصطلحات موضوعية: Proband, Adult, Male, Adolescent, Biology, medicine.disease_cause, Arginine, Combined hyperlipidemia, Chylomicrons, medicine, Serine, Genetics, Humans, Point Mutation, Child, Gene, Genetics (clinical), Mutation, Lipoprotein lipase, Haplotype, Middle Aged, medicine.disease, Founder Effect, Pedigree, Lipoprotein Lipase, Morocco, Allelic heterogeneity, lipids (amino acids, peptides, and proteins), Female, Hyperlipoproteinemia Type I, Founder effect
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc99cd04a0c03e134d2455a7ec2efcb
https://doi.org/10.1002/(sici)1098-1004(1997)10:3<179::aid-humu1>3.3.co;2-n -
5
المؤلفون: Niels B. Groot, T. Bruin, John J.P. Kastelein, Aivar Lookene, Gunilla Olivecrona
المساهمون: Faculteit der Geneeskunde
المصدر: The Journal of Biological Chemistry, 272, 766-772. American Society for Biochemistry and Molecular Biology Inc.
مصطلحات موضوعية: chemistry.chemical_classification, Alanine, Lipoprotein lipase, biology, Dimer, Mutant, Tryptophan, Cell Biology, Biochemistry, chemistry.chemical_compound, Enzyme, chemistry, biology.protein, Lipase, Molecular Biology, Chylomicron
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e61497f139dc52d1f5cc32fc972073cd
https://doi.org/10.1074/jbc.272.2.766 -
6
المؤلفون: AJ van Boven, Hans Jansen, J.H.C. Reiber, J.A. Henneman, E. Gagne, T. Bruin, G.P. Molhoek, A. V. G. Bruschke, A. H. Zwinderman, Michael R. Hayden, J.J.P. Kastelein, Joop Jukema, Björn E. Groenemeijer
المصدر: Circulation, 94(8), 1913-1918. LIPPINCOTT WILLIAMS & WILKINS
مصطلحات موضوعية: medicine.medical_specialty, Statin, medicine.drug_class, ARTERY DISEASE, medicine.medical_treatment, Population, Physiology (medical), Angioplasty, Internal medicine, medicine, Family history, CHOLESTEROL LEVELS, education, genes, Coronary atherosclerosis, education.field_of_study, Lipoprotein lipase, business.industry, lipoproteins, Endocrinology, atherosclerosis, Cardiology and Cardiovascular Medicine, business, Pravastatin, Lipoprotein, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94380730ab9b6601345706c8c1ccab18
https://doi.org/10.1161/01.cir.94.8.1913 -
7
المؤلفون: Daan Kromhout, John J.P. Kastelein, Elianne E.G. Appelman, Björn E. Groenemeyer, Michael R. Hayden, Li Miao, Karin van de Oever, Jaap C. Seidel, S.M. Bijvoet, E. Gagne, T. Bruin, P.W.A. Reymer
المصدر: Human Molecular Genetics, 4, 1543-1549
Human Molecular Genetics 4 (1995)مصطلحات موضوعية: Male, medicine.medical_specialty, Apolipoprotein B, Lipoproteins, Molecular Sequence Data, Hyperlipidemia, Familial Combined, medicine.disease_cause, Exon, chemistry.chemical_compound, Internal medicine, Hyperlipidemia, Serine, Genetics, medicine, Humans, Point Mutation, Life Science, Molecular Biology, Genetics (clinical), DNA Primers, Mutation, Lipoprotein lipase, Base Sequence, biology, Triglyceride, Point mutation, Vakgroep Gezondheidsleer, General Medicine, medicine.disease, Lipids, Environmental and Occupational Health Group, Lipoprotein Lipase, Endocrinology, chemistry, Biochemistry, biology.protein, Electrophoresis, Polyacrylamide Gel, lipids (amino acids, peptides, and proteins), Asparagine, Lipoprotein
وصف الملف: application/octet-stream; text/html
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::548a1ec4a9ea5097fd2b835c0019fa08
https://doi.org/10.1093/hmg/4.9.1543 -
8
المؤلفون: S Tuzgol, T. Bruin, S.M. Bijvoet, J.J.P. Kastelein, Michael R. Hayden
المساهمون: Other departments
المصدر: Journal of medical genetics, 31(8), 622-626. BMJ Publishing Group
مصطلحات موضوعية: Adult, Male, Proband, Very low-density lipoprotein, Apolipoprotein B, Apolipoprotein C-II, Molecular Sequence Data, Consanguinity, Biology, Polymerase Chain Reaction, Chylomicrons, Genetics, Humans, Point Mutation, Apolipoproteins C, Codon, Genetics (clinical), Lipoprotein lipase, Base Sequence, Point mutation, Abdominal Pain, Pedigree, Italy, biology.protein, Female, Hyperlipoproteinemia Type I, lipids (amino acids, peptides, and proteins), Chromosomes, Human, Pair 19, Research Article, Chylomicron
-
9
المؤلفون: A. van den Ende, John J.P. Kastelein, Michael R. Hayden, H. Jansen, T. Bruin, Willem J. M. Mulder, S. Tuzgöl
المساهمون: Other departments
المصدر: Journal of Lipid Research, Vol 35, Iss 3, Pp 438-445 (1994)
Journal of lipid research, 35(3), 438-445. American Society for Biochemistry and Molecular Biology Inc.مصطلحات موضوعية: medicine.medical_specialty, Lipoprotein lipase, Mutation, Triglyceride, Heterozygote advantage, QD415-436, Cell Biology, Biology, medicine.disease, medicine.disease_cause, Compound heterozygosity, Biochemistry, Lipoprotein lipase deficiency, chemistry.chemical_compound, Endocrinology, chemistry, Valine, Internal medicine, medicine, Leucine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1db47e336555cb57762d49bedb1ef5f
https://doi.org/10.1016/s0022-2275(20)41188-5 -
10
المؤلفون: Denise E. Van Diermen, Anton F. H. Stalenhoef, Yuanhong Ma, John J.P. Kastelein, Augueste Sturk, John D. Brunzell, T. Bruin, Michael R. Hayden, P. M. J. Stuyt, Howard E. Henderson
المساهمون: Other departments
المصدر: European Journal of Biochemistry / FEBS, 208(2), 267-272. Wiley-Blackwell
مصطلحات موضوعية: Adult, Proband, Proline, Molecular Sequence Data, Mutant, Biology, Arginine, Transfection, medicine.disease_cause, Polymerase Chain Reaction, Biochemistry, Catalysis, Cell Line, Structure-Activity Relationship, Catalytic triad, medicine, Humans, Missense mutation, Amino Acid Sequence, Deoxyribonucleases, Type II Site-Specific, Lipoprotein lipase, Mutation, COS cells, Base Sequence, Mutagenesis, Pedigree, Blotting, Southern, Lipoprotein Lipase, Mutagenesis, Site-Directed, Female, Hyperlipoproteinemia Type I