المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., van Dooren, S.J.M., Bartolome, M.T.A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J.T.R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., de Klerk, H.B.C., Korman, S.H., Lee, C., Lund, A.M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., den Dunnen, J.T., van der Knaap, M.S., Salomons, G.S.

المصدر: Steenweg , M E , Jakobs , C , Errami , A , van Dooren , S J M , Bartolome , M T A , Aerssens , P , Baric , I , Baumann , M , Bonafe , L , Chabrol , B , Clarke , J T R , Clayton , P , Coker , M , Cooper , S , Falik-Zaccai , T , Gorman , M , Hahn , A , Hasanoglu , A , King , M D , de Klerk , H B C , Korman , S H , Lee , ....

العلاقة: https://research.vumc.nl/en/publications/ee35a990-25ce-44f9-80f5-8d5014bae703Test

الإتاحة: https://doi.org/10.1002/humu.21197Test
https://research.vumc.nl/en/publications/ee35a990-25ce-44f9-80f5-8d5014bae703Test

المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., van Dooren, S.J.M., Bartolome, M.T.A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J.T.R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., de Klerk, H.B.C., Korman, S.H., Lee, C., Lund, A.M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., den Dunnen, J.T., van der Knaap, M.S., Salomons, G.S.

المصدر: Steenweg , M E , Jakobs , C , Errami , A , van Dooren , S J M , Bartolome , M T A , Aerssens , P , Baric , I , Baumann , M , Bonafe , L , Chabrol , B , Clarke , J T R , Clayton , P , Coker , M , Cooper , S , Falik-Zaccai , T , Gorman , M , Hahn , A , Hasanoglu , A , King , M D , de Klerk , H B C , Korman , S H , Lee , ....

العلاقة: https://research.vumc.nl/en/publications/ee35a990-25ce-44f9-80f5-8d5014bae703Test

الإتاحة: https://doi.org/10.1002/humu.21197Test
https://research.vumc.nl/en/publications/ee35a990-25ce-44f9-80f5-8d5014bae703Test

المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., van Dooren, S.J.M., Bartolome, M.T.A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J.T.R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., de Klerk, H.B.C., Korman, S.H., Lee, C., Lund, A.M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., den Dunnen, J.T., van der Knaap, M.S., Salomons, G.S.

المصدر: Steenweg , M E , Jakobs , C , Errami , A , van Dooren , S J M , Bartolome , M T A , Aerssens , P , Baric , I , Baumann , M , Bonafe , L , Chabrol , B , Clarke , J T R , Clayton , P , Coker , M , Cooper , S , Falik-Zaccai , T , Gorman , M , Hahn , A , Hasanoglu , A , King , M D , de Klerk , H B C , Korman , S H , Lee , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/95263931-fb09-4e23-874c-1d7b86039b10Test

الإتاحة: https://doi.org/10.1002/humu.21197Test
https://research.vu.nl/en/publications/95263931-fb09-4e23-874c-1d7b86039b10Test

المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., van Dooren, S.J.M., Bartolome, M.T.A., Aerssens, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J.T.R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., de Klerk, H.B.C., Korman, S.H., Lee, C., Lund, A.M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., den Dunnen, J.T., van der Knaap, M.S., Salomons, G.S.

المصدر: Steenweg , M E , Jakobs , C , Errami , A , van Dooren , S J M , Bartolome , M T A , Aerssens , P , Baric , I , Baumann , M , Bonafe , L , Chabrol , B , Clarke , J T R , Clayton , P , Coker , M , Cooper , S , Falik-Zaccai , T , Gorman , M , Hahn , A , Hasanoglu , A , King , M D , de Klerk , H B C , Korman , S H , Lee , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/95263931-fb09-4e23-874c-1d7b86039b10Test

الإتاحة: https://doi.org/10.1002/humu.21197Test
https://research.vu.nl/en/publications/95263931-fb09-4e23-874c-1d7b86039b10Test

المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., Dooren, S.J.M. van, Bartolome, M.T.A., Aerssens, P., Augoustides-Savvapoulou, P., Baric, I., Baumann, M., Bonafe, L., Chabrol, B., Clarke, J.T.R., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., Klerk, H.B.C. de, Korman, S.H., Lee, C., Lund, A.M., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., Dunnen, J.T. den, Knaap, M.S. van der, Salomons, G.S.

المصدر: Human Mutation

مصطلحات موضوعية: L-2-hydroxyglutaric aciduria L2HGDH phenotype mutational analysis LOVD database metabolite repair aciduria brain mutations acidemia defect tumors mri

العلاقة: lumc-id: 4666373; https://hdl.handle.net/1887/109355Test

الإتاحة: https://doi.org/10.1002/humu.21197Test
https://hdl.handle.net/1887/109355Test

المؤلفون: Steenweg, M.E., Jakobs, C., Errami, A., van Dooren, S.J., Adeva Bartolomé, M.T., Aerssens, P., Augoustides-Savvapoulou, P., Baric, I., Baumann, M., Bonafé, L., Chabrol, B., Clarke, J.T., Clayton, P., Coker, M., Cooper, S., Falik-Zaccai, T., Gorman, M., Hahn, A., Hasanoglu, A., King, M.D., de Klerk, H.B., Korman, S.H., Lee, C., Meldgaard Lund, A., Mejaski-Bosnjak, V., Pascual-Castroviejo, I., Raadhyaksha, A., Rootwelt, T., Roubertie, A., Ruiz-Falco, M.L., Scalais, E., Schimmel, U., Seijo-Martinez, M., Suri, M., Sykut-Cegielska, J., Trefz, F.K., Uziel, G., Valayannopoulos, V., Vianey-Saban, C., Vlaho, S., Vodopiutz, J., Wajner, M., Walter, J., Walter-Derbort, C., Yapici, Z., Zafeiriou, D.I., Spreeuwenberg, M.D., Celli, J., den Dunnen, J.T., van der Knaap, M.S., Salomons, G.S.

المصدر: Human Mutation, vol. 31, no. 4, pp. 380-390

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20052767; info:eu-repo/semantics/altIdentifier/pissn/1098-1004[electronic], 1059-7794[linking]; https://serval.unil.ch/notice/serval:BIB_E8A2F6936DC0Test

الإتاحة: https://doi.org/10.1002/humu.21197Test
https://serval.unil.ch/notice/serval:BIB_E8A2F6936DC0Test