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1دورية أكاديمية
المؤلفون: Kuijk LM, Frenkel J, Waterham HR, Koster J, Coffer PJ
المصدر: Pediatric Rheumatology Online Journal, Vol 6, Iss Suppl 1, p S24 (2008)
مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1546-0096
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2دورية أكاديمية
المؤلفون: Falkenberg, KD, Braverman, NE, Moser, AB, Steinberg, SJ, Klouwer, FCC, Schluter, A, Ruiz, M, Pujol, A, Engvall, M, Naess, K, van Spronsen, F, Korver-Keularts, I, Rubio-Gozalbo, ME, Ferdinandusse, S, Wanders, RJA, Waterham, HR
المصدر: American journal of human genetics. 101(6):965-976
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: van Kuilenburg, ABP, Dobritzsch, D, Meinsma, R, Haasjes, J, Waterham, HR, Nowaczyk, MJM, Maropoulos, GD, Hein, GD, Kalhoff, H, Kirk, JM, Baaske, H, Aukett, A, Duley, JA, Ward, KP, Lindqvist, Y, van Gennip, AH
المصدر: The Biochemical journal. 364(Pt 1):157-163
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
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5Heimler syndrome is caused by hypomorphic mutations in the peroxisome-biogenesis genes PEX1 and PEX6
المؤلفون: Ratbi, I, Falkenberg, KD, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, JE, Chandler, KE, Williams, SJ, Roberts, NA, El Alloussi, M, Black, GC, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S, Cooper, N, Ong, KR, Smith, CEL, Inglehearn, CF, Mighell, AJ, Elcock, C, Poulter, JA, Tischkowitz, M, Davies, SJ, Sefiani, A, Mironov, AA, Newman, WG, Waterham, HR, Van Camp, G
المساهمون: Graduate School, Laboratory for General Clinical Chemistry, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases
المصدر: The American journal of human genetics
Ratbi, I, Falkenberg, K D, Sommen, M, Al-Sheqaih, N, Guaoua, S, Vandeweyer, G, Urquhart, J, Chandler, K E, Williams, S, Roberts, N, El Alloussi, M, Black, G, Ferdinandusse, S, Ramdi, H, Heimler, A, Fryer, A, Lynch, S-A, Cooper, N, Ong, K R, Smith, C E L, Inglehearn, C F, Mighell, A J, Elcock, C, Poulter, J A, Tischkowitz, M, Davies, S J, Sefiani, A, Mironov, A, Newman, W, Waterham, H R & Van Camp, G 2015, ' Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ', American Journal of Human Genetics, vol. 97, no. 4, pp. 535-545 . https://doi.org/10.1016/j.ajhg.2015.08.011
American journal of human genetics, 97(4), 535-545. Cell Pressمصطلحات موضوعية: Adult, Male, Adolescent, Amelogenesis Imperfecta, Hearing Loss, Sensorineural, Nails, Malformed, Article, Young Adult, Genetics, Peroxisomes, Humans, Genetics(clinical), Child, Cells, Cultured, Adenosine Triphosphatases, Infant, Newborn, Infant, Membrane Proteins, Fibroblasts, Prognosis, Pedigree, Survival Rate, Phenotype, Case-Control Studies, Child, Preschool, Mutation, ATPases Associated with Diverse Cellular Activities, Female, Human medicine, Follow-Up Studies
وصف الملف: pdf; application/pdf
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6
المؤلفون: Frenkel, J, Houten, SM, Waterham, HR, Rijkers, GT, Duran, M, Kuijpers, TW, van Luijk, W, Poll-The, BT, Kuis, W
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: Rheumatology, 40(5), 579-584. Oxford University Press
مصطلحات موضوعية: fever, mevalonic acid, familial Mediterranean fever, mevalonate kinase, MUTATIONS, KINASE, IgD, periodicity, hypergammaglobulinaemia, MEVALONIC ACIDURIA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::ce86d23517de93c4fd6add72b6dfb6f4
https://research.rug.nl/en/publications/a4d504c7-577a-4b53-a1f7-2a07eb56840c -
7
المؤلفون: Vaz, FM, Scholte, Jasper, Ruiter, J, Odijk, Lidia, Rodrigues Pereira, R, Schweitzer, S, Klerk, Hans, Waterham, HR, Wanders, RJA
المساهمون: Biochemistry, Pediatrics
المصدر: Human Genetics, 105, 157-161. Springer-Verlag
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8
المؤلفون: Waterham, HR, DeVries, Y, Russell, KA, Xie, WQ, Veenhuis, M, Cregg, JM, Reddy, JK, Suga, T, Mannaerts, GP, Lazarow, PB, Subrammani, S
المصدر: PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASE, 773-774
STARTPAGE=773;ENDPAGE=774;TITLE=PEROXISOMES: BIOLOGY AND ROLE IN TOXICOLOGY AND DISEASEURL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::7d44f079d94061cf4d2fb059c2e0b3cf
https://research.rug.nl/en/publications/a9fa7cbf-a8b4-45e3-8d14-96abd18a2bf4 -
9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.