المؤلفون: Helman, G., Lajoie, B.R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A.M., Gainullin, V.G., Bent, S.J., Jenkinson, E.M., Ferdinandusse, S., Waterham, H.R., Dorboz, I., Bertini, E., Miyake, N., Wolf, N.I., Abbink, T.E.M., Kirwin, S.M., Tan, C.M., Hobson, G.M.

المصدر: http://dx.doi.org/10.1002/acn3.50957Test.

مصطلحات موضوعية: Humans, Registries, Pedigree, Adolescent, Child, Preschool, Female, Male, Leukoencephalopathies, Whole Genome Sequencing

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1068278Test; Annals of Clinical and Translational Neurology, 2020; 7(1):144-152; http://hdl.handle.net/2440/123332Test; Bent, S.J. [0000-0003-1563-2855]

الإتاحة: https://doi.org/10.1002/acn3.50957Test
http://hdl.handle.net/2440/123332Test

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 Press

مصطلحات 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