المؤلفون: Nota, B., Struys, E.A., Pop, A., Jansen, E.E., Ojeda, M.R.F., Kanhai, W.A., Kranendijk, M., van Dooren, S.J.M., Bevova, M.R., Sistermans, E.A., Nieuwint, A.W.M., Barth, M., Ben-Omran, T., Hoffmann, G.F., de Lonlay, P., McDonald, M.T., Meberg, A., Muntau, A.C., Nuoffer, J.M., Parini, R., Read, M.H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M.S., Jakobs, C.A.J.M., Salomons, G.S.

المصدر: Nota , B , Struys , E A , Pop , A , Jansen , E E , Ojeda , M R F , Kanhai , W A , Kranendijk , M , van Dooren , S J M , Bevova , M R , Sistermans , E A , Nieuwint , A W M , Barth , M , Ben-Omran , T , Hoffmann , G F , de Lonlay , P , McDonald , M T , Meberg , A , Muntau , A C , Nuoffer , J M , Parini , R , Read , ....

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/e1c10706-1cd4-4dd4-9aad-4325de0a3ae7Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.03.009Test
https://research.vu.nl/en/publications/e1c10706-1cd4-4dd4-9aad-4325de0a3ae7Test
https://hdl.handle.net/1871.1/e1c10706-1cd4-4dd4-9aad-4325de0a3ae7Test

المؤلفون: Otto, B.R., van Dooren, S.J.M., Dozois, C.M., Luirink, S., Oudega, B.

المصدر: Otto , B R , van Dooren , S J M , Dozois , C M , Luirink , S & Oudega , B 2002 , ' Escherichia coli hemoglobin protease autotransporter contributes to synergistic abscess formation and heme-dependent growth of Bacteroides fragilis. ' , Infection and Immunity , vol. 70 , pp. 5-10 . https://doi.org/10.1128/IAI.70.1.5-10.2002Test

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

وصف الملف: application/pdf

العلاقة: https://research.vu.nl/en/publications/cb70cef9-531a-4569-88b7-a5ebb4427fbfTest

الإتاحة: https://doi.org/10.1128/IAI.70.1.5-10.2002Test
https://research.vu.nl/en/publications/cb70cef9-531a-4569-88b7-a5ebb4427fbfTest
https://research.vu.nl/ws/files/1833321/147334.pdfTest

المؤلفون: Otto, B.R., van Dooren, S.J.M., Nuijens, J.H., Luirink, S., Oudega, B.

المصدر: Otto , B R , van Dooren , S J M , Nuijens , J H , Luirink , S & Oudega , B 1998 , ' Characterisation of a haemoglobin protease secreted by pathogenic Escherichia coli. ' , Journal of Experimental Medicine , vol. 188 , pp. 1091-1103 . https://doi.org/10.1084/jem.188.6.1091Test

العلاقة: https://research.vu.nl/en/publications/410d5696-74c0-4451-a992-745539438abdTest

الإتاحة: https://doi.org/10.1084/jem.188.6.1091Test
https://research.vu.nl/en/publications/410d5696-74c0-4451-a992-745539438abdTest
https://hdl.handle.net/1871.1/410d5696-74c0-4451-a992-745539438abdTest

المؤلفون: van de Kamp, J.M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S.J.M., Mancini, G.M., Steinberg, S.J., Salomons, G.

المصدر: van de Kamp , J M , Errami , A , Howidi , M , Anselm , I , Winter , S , Phalin-Roque , J , Osaka , H , van Dooren , S J M , Mancini , G M , Steinberg , S J & Salomons , G 2015 , ' Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 ' , Clinical Genetics , vol. 87 , no. 2 , pp. 141-147 . https://doi.org/10.1111/cge.12355Test

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/3fee7ed4-8c32-430b-80d0-759127e0f757Test

الإتاحة: https://doi.org/10.1111/cge.12355Test
https://research.vu.nl/en/publications/3fee7ed4-8c32-430b-80d0-759127e0f757Test
https://hdl.handle.net/1871.1/3fee7ed4-8c32-430b-80d0-759127e0f757Test

المؤلفون: Van Der Knaap, M.S., Ramesh, V., Schiffmann, R., Blaser, S., Kyllerman, Mårten, 1941, Gholkar, A., Ellison, D.W., Van Der Voorn, J.P., Van Dooren, S.J.M., Jakobs, C., Barkhof, F., Salomons, G.S.

المصدر: NEUROLOGY. 66(4):494-498

مصطلحات موضوعية: Neurology, Neurologi, fibrillary acidic protein, mutation, gfap, gene, juvenile

الوصول الحر: https://gup.ub.gu.se/publication/91153Test

المؤلفون: Mendes, M.I.S., Colaco, H.G., Smith, D.E.C., Ramos, R.J.J.F., Pop, A., van Dooren, S.J.M., de Almeida, I.T., Kluijtmans, L.A.J., Janssen, M.C.H., Rivera, I., Salomons, G.S., Leandro, P., Blom, H.J.

المصدر: Mendes , M I S , Colaco , H G , Smith , D E C , Ramos , R J J F , Pop , A , van Dooren , S J M , de Almeida , I T , Kluijtmans , L A J , Janssen , M C H , Rivera , I , Salomons , G S , Leandro , P & Blom , H J 2014 , ' Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients ' , Journal of Inherited Metabolic ....

العلاقة: https://research.vumc.nl/en/publications/4e7044b8-1143-4d77-aad0-d68d07ecccb6Test

الإتاحة: https://doi.org/10.1007/s10545-013-9647-6Test
https://research.vumc.nl/en/publications/4e7044b8-1143-4d77-aad0-d68d07ecccb6Test

المؤلفون: Nota, B., Ndika, J.D.T., van de Kamp, J.M., Kanhai, W.A., van Dooren, S.J.M., van de Wiel, M.A., Pals, G., Salomons, G.S.

المصدر: Nota , B , Ndika , J D T , van de Kamp , J M , Kanhai , W A , van Dooren , S J M , van de Wiel , M A , Pals , G & Salomons , G S 2014 , ' RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix ' , Human Mutation , vol. 35 , no. 9 , pp. 1128-1135 . https://doi.org/10.1002/humu.22609Test

العلاقة: https://research.vu.nl/en/publications/2d78687b-fa67-4523-b825-4428486f2ea5Test

الإتاحة: https://doi.org/10.1002/humu.22609Test
https://research.vu.nl/en/publications/2d78687b-fa67-4523-b825-4428486f2ea5Test
https://hdl.handle.net/1871.1/2d78687b-fa67-4523-b825-4428486f2ea5Test

المؤلفون: Ndika, J.D.T., Martinez-Munoz, C., Anand, N., van Dooren, S.J.M., Kanhai, W., Smith, D.E.C., Jakobs, C.A.J.M., Salomons, G.S.

المصدر: Ndika , J D T , Martinez-Munoz , C , Anand , N , van Dooren , S J M , Kanhai , W , Smith , D E C , Jakobs , C A J M & Salomons , G S 2014 , ' Post-transcriptional regulation of the creatine transporter gene: Functional relevance of alternative splicing ' , Biochimica et Biophysica Acta (BBA) - General Subjects , vol. 1840 , no. 6 , pp. 2070-2079 . https://doi.org/10.1016/j.bbagen.2014.02.012Test

العلاقة: https://research.vumc.nl/en/publications/b519024f-282f-43e6-b9d4-874fecd7255dTest

الإتاحة: https://doi.org/10.1016/j.bbagen.2014.02.012Test
https://research.vumc.nl/en/publications/b519024f-282f-43e6-b9d4-874fecd7255dTest

المؤلفون: van de Kamp, J.M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin‐Roque, J., Osaka, H., van Dooren, S.J.M., Mancini, G.M., Steinberg, S.J., Salomons, G.S.

المصدر: Clinical Genetics ; volume 87, issue 2, page 141-147 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.12355Test

المؤلفون: Salomons, G.S., van Dooren, S.J.M., Verhoeven, N.M., Schwartz, C.E., Marsden, D.L., Cecil, K.M., DeGrauw, T.J., Jakobs, C.A.J.M.

المصدر: Salomons , G S , van Dooren , S J M , Verhoeven , N M , Schwartz , C E , Marsden , D L , Cecil , K M , DeGrauw , T J & Jakobs , C A J M 2005 , X-linked creatine transporter deficiency: molecular and biochemical aspects . in Unknown . SPS-Verlaggesellschaft , Heilbronn, Germany , pp. 41-48 .

العلاقة: https://research.vu.nl/en/publications/bbaa1a24-c93c-42f2-b824-e333c887cc9fTest; urn:ISBN:3936145237; urn:ISBN:9783936145236

الإتاحة: https://research.vu.nl/en/publications/bbaa1a24-c93c-42f2-b824-e333c887cc9fTest
https://hdl.handle.net/1871.1/bbaa1a24-c93c-42f2-b824-e333c887cc9fTest