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المؤلفون: Lee, R.G., Balasubramaniam, S., Stentenbach, M., Kralj, T., McCubbin, T., Padman, B., Smith, J., Riley, L.G., Priyadarshi, A., Peng, L.Y., Nuske, M.R., Webster, R., Peacock, K., Roberts, P., Stark, Z., Lemire, G., Ito, Y.A., Boycott, K.M., Geraghty, M.T., Klinken, J.B., Ferdinandusse, S., Zhou, Y., Walsh, R., Marcellin, E., Thorburn, D.R., Rosciolli, T., Fletcher, J., Rackham, O., Vaz, F.M., Reid, G.E., Filipovska, A., Care4Rare Canada Consortium
المساهمون: Laboratory Genetic Metabolic Diseases, Laboratory for General Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, APH - Methodology, APH - Personalized Medicine
المصدر: Human Molecular Genetics, 31(21), 3597-3612. OXFORD UNIV PRESS
Human molecular genetics, 31(21), 3597-3612. Oxford University Pressمصطلحات موضوعية: Proteomics, Brain Diseases, Mitochondrial Diseases, Mitochondrial Diseases/metabolism, Cardiolipins, Brain Diseases/metabolism, General Medicine, Mitochondria, Mice, Cardiolipins/genetics, Genetics, Animals, Mitochondria/genetics, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e79bac1d14fa395f9b21de73859fd0Test
https://pubmed.ncbi.nlm.nih.gov/36563328Test -
2دورية أكاديمية
المؤلفون: Ferdinandusse, S., Kostopoulos, P., Denis, S., Rusch, H., Overmars, H., Dillmann, U., Reith, W., Haas, D., Wanders, R.J.A., Duran, M., Marziniak, M.
المصدر: The American Journal of Human Genetics ; volume 78, issue 6, page 1046-1052 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1086/503921Test
https://api.elsevier.com/content/article/PII:S0002929707639251?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707639251?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Ferdinandusse, S., van Grunsven, E.G., Oostheim, W., Denis, S., Hogenhout, E.M., IJlst, L., van Roermund, C.W.T., Waterham, H.R., Goldfischer, S., Wanders, R.J.A.
المصدر: The American Journal of Human Genetics ; volume 70, issue 6, page 1589-1593 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1086/340970Test
https://api.elsevier.com/content/article/PII:S0002929707607125?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707607125?httpAccept=text/plainTest -
4Heimler 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.2015.08.011Test
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7c7cfdea4a0813b99967b331b96a330cTest
https://hdl.handle.net/10067/1287660151162165141Test -
5دورية أكاديمية
المؤلفون: GLOERICH, J, IJLST, L, WANDERS, R, FERDINANDUSSE, S
المصدر: Molecular Genetics and Metabolism ; volume 89, issue 1-2, page 111-115 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2006.05.009Test
https://api.elsevier.com/content/article/PII:S1096719206001880?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719206001880?httpAccept=text/plainTest