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1دورية أكاديمية
المؤلفون: Petr E. Jira, Ron A. Wevers, Jan de Jong, Estela Rubio-Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno F.J. van Heyst, Rob C.A. Sengers, Jan A.M. Smeitink
المصدر: Journal of Lipid Research, Vol 41, Iss 8, Pp 1339-1346 (2000)
مصطلحات موضوعية: cholesterol biosynthesis, Smith-Lemli-Opitz syndrome, simvastatin, exchange transfusion, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520334428; https://doaj.org/toc/0022-2275
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2
المؤلفون: P. E. Jira, J. A. Grotenhuis, S. H. J. Zegers, M A. A. P. Willemsen
المصدر: Tijdschrift voor Kindergeneeskunde. 72:258-261
مصطلحات موضوعية: media_common.quotation_subject, Pediatrics, Perinatology and Child Health, Art, Humanities, media_common
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3
المؤلفون: P. E. JIRA, R. J. A. WANDERS, J. A. M. SMEITINK, J. JONG, R. A. WEVERS, W. OOSTHEIM, J. H. A. M. TUERLINGS, R. C. M. HENNEKAM, R. C. A. SENGERS, H. R. WATERHAM
المساهمون: Other departments
المصدر: Annals of human genetics, 65(Part 3), 229-236. Wiley-Blackwell
Annals of Human Genetics, 65, Pt 3, pp. 229--36
Annals of Human Genetics, 65, 229--36مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neuromuscular and neurometabolic disorders, Neuromusculaire en neurometabole aandoeningen, Elucidation of hereditary disorders and their molecular diagnosis, Genetics, Inborn errors of metabolism, Erfelijke stofwisselingsziekten, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Genetics (clinical)
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المؤلفون: P E, Jira, R J, Wanders, J A, Smeitink, J, De Jong, R A, Wevers, W, Oostheim, J H, Tuerlings, R C, Hennekam, R C, Sengers, H R, Waterham
المصدر: Annals of human genetics. 65(Pt 3)
مصطلحات موضوعية: Male, Heterozygote, Oxidoreductases Acting on CH-CH Group Donors, Genotype, RNA Splicing, DNA Mutational Analysis, Infant, Newborn, Mutation, Missense, Infant, Genes, Recessive, Exons, Smith-Lemli-Opitz Syndrome, Phenotype, Codon, Nonsense, Karyotyping, Mutation, Humans, Female, Child, Frameshift Mutation, Oxidoreductases, Gene Deletion
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5
المؤلفون: P E, Jira, R A, Wevers, J, de Jong, E, Rubio-Gozalbo, F S, Janssen-Zijlstra, A F, van Heyst, R C, Sengers, J A, Smeitink
المصدر: Journal of lipid research. 41(8)
مصطلحات موضوعية: Simvastatin, Cholesterol, Dehydrocholesterols, Cholestadienols, Erythrocyte Membrane, Exchange Transfusion, Whole Blood, Humans, Infant, Female, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Smith-Lemli-Opitz Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::50535bec5706b2128a84a3495b2ee756
https://pubmed.ncbi.nlm.nih.gov/10946022 -
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المؤلفون: M A, Willemsen, P E, Jira, F J, Gabreëls, A T, van der Ploeg, J A, Smeitink
المصدر: Nederlands tijdschrift voor geneeskunde. 142(24)
مصطلحات موضوعية: Male, Electrocardiography, Glycogen Storage Disease Type II, Cardiac Output, Low, Humans, Infant, Muscle Hypotonia, Female, alpha-Glucosidases, Genetic Testing, Cardiomyopathy, Hypertrophic, Clinical Enzyme Tests
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::90eed1cdb5b97d6f713647d2e5cde4a8
https://pubmed.ncbi.nlm.nih.gov/9752027 -
7
المؤلفون: P E, Jira, B A, Semmekrot, T B, Vree, L A, Monnens
المصدر: Nederlands tijdschrift voor geneeskunde. 140(31)
مصطلحات موضوعية: Theophylline, Seizures, Vomiting, Poisoning, Tachycardia, Infant, Newborn, Humans, Medication Errors, Female, Respiratory Insufficiency, Peritoneal Dialysis, Akathisia, Drug-Induced
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e31aeb9d1bc9deb607a9bf39fd3eed3
https://pubmed.ncbi.nlm.nih.gov/8768816 -
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المؤلفون: C M, Aalfs, R C, Hennekam, R J, Wanders, P E, Jira, J W, Pilon, F A, Wijburg
المصدر: Nederlands tijdschrift voor geneeskunde. 140(28)
مصطلحات موضوعية: Male, Oxidoreductases Acting on CH-CH Group Donors, Cholesterol, Chromatography, Gas, Dehydrocholesterols, Infant, Newborn, Humans, Abnormalities, Multiple, Genes, Recessive, Oxidoreductases, Smith-Lemli-Opitz Syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e3ac28fd38c695a82cb35e6405a9f44f
https://pubmed.ncbi.nlm.nih.gov/8766772 -
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المؤلفون: P E, Jira, L A, Kollée
المصدر: Nederlands tijdschrift voor geneeskunde. 138(7)
مصطلحات موضوعية: Learning Disabilities, Developmental Disabilities, Infant, Small for Gestational Age, Infant, Newborn, Humans, Child, Infant, Premature, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e82e99c67d4447eb7fdc42b97eaae80a
https://pubmed.ncbi.nlm.nih.gov/8277981 -
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المؤلفون: E. van Rijswijk, Sylvia B. Debast, Jacques F. Meis, P. E. Jira
المصدر: European Journal of Clinical Microbiology & Infectious Diseases. 12:720-721
مصطلحات موضوعية: Microbiology (medical), medicine.medical_specialty, Ventriculo peritoneal shunt, business.industry, General Medicine, Clostridium perfringens, medicine.disease, medicine.disease_cause, Surgery, Infectious Diseases, Medical microbiology, Medicine, business, Meningitis