المؤلفون: Alabdulrazzaq, F, Alanzi, T, Al‐Balool, HH, Gardham, A, Wakeling, E, Leitch, HG, AlSayed, M, Abdulrahim, M, Aladwani, A, Romito, A, Kampe, K, Ferdinandusse, S, Aboelanine, AH, Abdullah, A, Alwadani, A, Bastaki, L, Vaz, FM, Bertoli‐Avella, AM, Marafi, D

المصدر: 15 ; 1

العلاقة: Molecular Genetics and Genomic Medicine; http://hdl.handle.net/10044/1/106315Test

الإتاحة: https://doi.org/10.1002/mgg3.2256Test
http://hdl.handle.net/10044/1/106315Test

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: Simon, MT, Eftekharian, SS, Ferdinandusse, S, Tang, S, Naseri, T, Reupena, MS, McGarvey, ST, Minster, RL, Weeks, DE, Nguyen, DD, Lee, S, Ellsworth, KA, Vaz, FM, Dimmock, D, Pitt, J, Abdenur, JE

العلاقة: Simon, M. T., Eftekharian, S. S., Ferdinandusse, S., Tang, S., Naseri, T., Reupena, M. S., McGarvey, S. T., Minster, R. L., Weeks, D. E., Nguyen, D. D., Lee, S., Ellsworth, K. A., Vaz, F. M., Dimmock, D., Pitt, J. & Abdenur, J. E. (2020). ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 185 (1), pp.157-167. https://doi.org/10.1002/ajmg.a.61936Test.; http://hdl.handle.net/11343/252658Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61936Test
http://hdl.handle.net/11343/252658Test

المؤلفون: Bleeker, JC, Visser, G, Clarke, K, Ferdinandusse, S, de Haan, FH, Houtkooper, RH, IJlst, L, Kok, IL, Langeveld, M, van der Pol, WL, de Sain-van der Velden, MGM, Sibeijn-Kuiper, A, Takken, T, Wanders, RJA, van Weeghel, M, Wijburg, FA, van der Woude, LH, Wüst, RCI, Cox, PJ, Jeneson, JAL

العلاقة: https://ora.ox.ac.uk/objects/uuid:77c501b1-c62f-4b97-9f8b-d60686348e14Test; https://doi.org/10.1002/jimd.12217Test

الإتاحة: https://doi.org/10.1002/jimd.12217Test
https://ora.ox.ac.uk/objects/uuid:77c501b1-c62f-4b97-9f8b-d60686348e14Test

المؤلفون: Fitzsimons, PE, Alston, CL, Bonnen, PE, Hughes, J, Crushell, E, Geraghty, MT, Tetreault, M, O'Reilly, P, Twomey, E, Sheikh, Y, Walsh, R, Waterham, HR, Ferdinandusse, S, Wanders, RJA, Taylor, RW, Pitt, JJ, Mayne, PD

العلاقة: Fitzsimons, P. E., Alston, C. L., Bonnen, P. E., Hughes, J., Crushell, E., Geraghty, M. T., Tetreault, M., O'Reilly, P., Twomey, E., Sheikh, Y., Walsh, R., Waterham, H. R., Ferdinandusse, S., Wanders, R. J. A., Taylor, R. W., Pitt, J. J. & Mayne, P. D. (2018). Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A, 176 (5), pp.1115-1127. https://doi.org/10.1002/ajmg.a.38658Test.; http://hdl.handle.net/11343/253579Test

الإتاحة: https://doi.org/10.1002/ajmg.a.38658Test
http://hdl.handle.net/11343/253579Test

المؤلفون: Gloerich, J., Ruiter, J.P.N., van den Brink, D.M., Ofman, R., Ferdinandusse, S., Wanders, R.J.A.

المصدر: FEBS Letters ; volume 580, issue 8, page 2092-2096 ; ISSN 0014-5793 1873-3468

الإتاحة: https://doi.org/10.1016/j.febslet.2006.03.011Test

المؤلفون: BOEMER, François, DEBERG, Michelle, SCHOOS, Roland, CABERG, Jean-Hubert, GAILLEZ, Stephanie, Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., DEBRAY, François-Guillaume

المصدر: Clinical Genetics (2016)

مصطلحات موضوعية: Dandy-Walker malformation, acylcarnitines, carnitine palmitoyltransferase type 2 deficiency, cerebral dysgenesis, inborn error of metabolism, prenatal diagnosis, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:0009-9163; urn:issn:1399-0004; https://orbi.uliege.be/handle/2268/181469Test; info:hdl:2268/181469; scopus-id:2-s2.0-84946163183; info:pmid:25827434

الإتاحة: https://doi.org/10.1111/cge.12593Test
https://orbi.uliege.be/handle/2268/181469Test

المؤلفون: Boemer, F., Deberg, M., Schoos, R., Caberg, J.‐H., Gaillez, S., Dugauquier, C., Delbecque, K., François, A., Maton, P., Demonceau, N., Senterre, G., Ferdinandusse, S., Debray, F.‐G.

المصدر: Clinical Genetics ; volume 89, issue 2, page 193-197 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12593Test

المؤلفون: Soorani‐Lunsing, R. J., van Spronsen, F. J., Stolte‐Dijkstra, I., Wanders, R. J., Ferdinandusse, S., Waterham, H. R., Poll‐The, B. T., Rake, J. P.

المصدر: Journal of Inherited Metabolic Disease ; volume 28, issue 6, page 1172-1174 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-005-0149-zTest

المؤلفون: Renes, I. B., Verburg, M., Duits, L. A., Ferdinandusse, S., Büller, H. A., Einerhand, A. W.C., Dekker, J.

المصدر: Journal of Pediatric Gastroenterology and Nutrition ; volume 26, issue 5, page 561-561 ; ISSN 0277-2116 1536-4801

الإتاحة: https://doi.org/10.1002/j.1536-4801.1998.tb00974.xTest