المؤلفون: Theunissen, T E J, Szklarczyk, R, Gerards, M, Hellebrekers, DMEI, den Hartog, NM (Elvira), Vanoevelen, J, Kamps, R, de Koning, B, Rutledge, S L, Schmitt-Mechelke, T, van Berkel, CGM, van der Knaap, MS, Coo, IFM, Smeets, HJM

المصدر: Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 . https://doi.org/10.3389/fneur.2016.00203

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/409e3450-9838-42fb-8489-ca121eb1ecc1
https://doi.org/10.3389/fneur.2016.00203
https://pure.eur.nl/ws/files/47724025/REPUB_94954.pdf
http://hdl.handle.net/1765/94954

المؤلفون: Dallabona, C, Abbink, TEM, Carrozzo, R, Torraco, A, Legati, A, van Berkel, CGM, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, SG, Kurian, MA, Verma, IC, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, MS, Bertini, E

مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Child, Humans, Leukoencephalopathy, Progressive Multifocal / diagnosis, Progressive Multifocal / genetics, Mitochondrial Proteins / genetics, Molecular Chaperones / genetics, Molecular Sequence Data, Mutation / genetics, Saccharomyces cerevisiae, HDE NEU PED

Relation: Brain . 2016 Mar;139(Pt 3):782-94; http://hdl.handle.net/10400.17/4720

الاتاحة: http://hdl.handle.net/10400.17/4720
https://doi.org/10.1093/brain/awv392

المؤلفون: Kevelam SH, Taube JR, van Spaendonk RML, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CDM, Ostergaard JR, Friederich RL, Elsaid MF, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CGM, Waisfisz Q, Abbink TEM, van der Knaap MS, Hobson GM, Wolf NI

المساهمون: S. Kevelam, J. Taube, R. van Spaendonk, E. Bertini, K. Sperle, M. Tarnopolsky, D. Tonduti, E. Valente, L. Travaglini, E. Sisterman, G. Bernard, C. Catsman-Berrevoet, C. van Karnebeek, J. Ostergaard, R. Friederich, M. Elsaid, J. Schieving, M. Tarailo-Graovac, S. Orcesi, M. Steenweg, C. van Berkel, Q. Waisfisz, T. Abbink, M. van der Knaap, G. Hobson, N. Wolf

مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/26125040; info:eu-repo/semantics/altIdentifier/wos/WOS:000366982700005; volume:2; issue:6; firstpage:648; lastpage:661; numberofpages:14; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; https://hdl.handle.net/2434/938712; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84991209261

الاتاحة: https://hdl.handle.net/2434/938712
https://doi.org/10.1002/acn3.203

المؤلفون: Pronk, JC, Scheper, GC, van Andel, RJ, van Berkel, CGM, Polman, CH, Uitdehaag, BMJ, van der Knaap, MS

المصدر: Multiple Sclerosis Journal ; volume 14, issue 8, page 1123-1126 ; ISSN 1352-4585 1477-0970

الاتاحة: https://doi.org/10.1177/1352458508093618
https://journals.sagepub.com/doi/pdf/10.1177/1352458508093618

المؤلفون: Wijker, M, Morgan, NV, Herterich, S, van Berkel, CGM, Tipping, AJ, Gross, HJ, Gille, JJP, Pals, G, Savino, M, Altay, C, Mohan, S, Dokal, I, Cavenagh, J, Marsh, J, Van Weel, M, Ortega, JJ, Schuler, D, Samochatova, E, Karwacki, M, Bekassy, AN, Abecasis, M, Ebell, W, Kwee, ML, de Ravel, T, Gibson, RA, Gluckman, E, Arwert, F, Joenje, H, Savoia, A, Hoehn, H, Pronk, JC, Mathew, CG

المساهمون: Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Biochemistry & Molecular Biology, Genetics & Heredity

وصف الملف: text/plain; application/pdf

Relation: European Journal Of Human Genetics; https://doi.org/10.1038/sj.ejhg.5200248; http://hdl.handle.net/11655/14061; 52; 59

الاتاحة: http://hdl.handle.net/11655/14061
https://doi.org/10.1038/sj.ejhg.5200248

المؤلفون: van Berge, L, Hamilton, EM, Linnankivi, T, Uziel, G, Steenweg, ME, Isohanni, P, Wolf, NI, Krageloh-Mann, I, Brautaset, NJ, Andrews, PI, de Jong, BA, al Ghamdi, M, Van Wieringen, WN, Tannous, BA, Hulleman, E, Wurdinger, T, van Berkel, CGM, Polder, E, Abbink, TEM, Struys, EA, Scheper, GC, van der Knaap, MS

المصدر: van Berge , L , Hamilton , EM , Linnankivi , T , Uziel , G , Steenweg , ME , Isohanni , P , Wolf , NI , Krageloh-Mann , I , Brautaset , NJ , Andrews , PI , de Jong , BA , al Ghamdi , M , Van Wieringen , WN , Tannous , BA , Hulleman , E , Wurdinger , T , van Berkel , CGM , Polder , E , Abbink , TEM , Struys , EA , Scheper , GC & van der Knaap , MS 2014 , ' Leukoencephalopathy with ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02

الاتاحة: https://pure.eur.nl/en/publications/85b3873d-4751-4664-8449-d9ae30e89d49
https://doi.org/10.1093/brain/awu026

المؤلفون: van der Lei, HDW, Gerver, JAM, van Berkel, CGM, van der Knaap, MS

المصدر: European Journal of Paediatric Neurology ; volume 17, page S21 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(13)70069-2
https://api.elsevier.com/content/article/PII:S1090379813700692?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379813700692?httpAccept=text/plain

المؤلفون: Steenweg, ME, van Berge, L (Laura), van Berkel, CGM, Coo, IFM, Temple, IK, Brockmann, K, Mendonca, CIP, Vojta, S, Kolk, Ans, Peck, D, Carr, L, Uziel, G, Feigenbaum, A, Blaser, S, Scheper, GC, van der Knaap, MS

المصدر: Steenweg , ME , van Berge , L , van Berkel , CGM , Coo , IFM , Temple , IK , Brockmann , K , Mendonca , CIP , Vojta , S , Kolk , A , Peck , D , Carr , L , Uziel , G , Feigenbaum , A , Blaser , S , Scheper , GC & van der Knaap , MS 2012 , ' Early-Onset LBSL: How Severe Does It Get? ' , Neuropediatrics , vol. 43 , no. 6 , pp. 332-338 . https://doi.org/10.1055/s-0032-1329395

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02

الاتاحة: https://pure.eur.nl/en/publications/9a9de027-d208-42ee-8638-706d956f8202
https://doi.org/10.1055/s-0032-1329395
http://hdl.handle.net/1765/38571

المؤلفون: WIJKER M, MORGAN NV, HERTERICH S, VAN BERKEL CGM, TIPPING AJ, SCHNDLER D, GILLE JJP, PALS G, SAVINO M, ALTAY C, MOHAN SP, DOKAL I, CAVENAGH J, MARSH J, VAN WEEL M, ORTEGA JJ, SCULER D, SAMOCHATOVA E, KARWACKI M, BERKASSY A, ABECASIS M, EBELL W, KWEE ML, GIBSON RA, GLUCKMAN E, ARWERT F, JOENJE H, SAVOIA A., HOEHN H, PRONK JC, MATHEW CG

المساهمون: Wijker, M, Morgan, Nv, Herterich, S, VAN BERKEL, Cgm, Tipping, Aj, Schndler, D, Gille, Jjp, Pals, G, Savino, M, Altay, C, Mohan, Sp, Dokal, I, Cavenagh, J, Marsh, J, VAN WEEL, M, Ortega, Jj, Sculer, D, Samochatova, E, Karwacki, M, Berkassy, A, Abecasis, M, Ebell, W, Kwee, Ml, Gibson, Ra, Gluckman, E, Arwert, F, Joenje, H, Savoia, A., Hoehn, H, Pronk, Jc, Mathew, Cg

Relation: volume:7; firstpage:52; lastpage:59; numberofpages:8; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11562/1064466

الاتاحة: http://hdl.handle.net/11562/1064466

المؤلفون: WAISFISZ Q, MORGAN NV, SAVINO M, DE WINTER JP, VAN BERKEL CGM, IANZANO L, GIBSON RA, ARWERT F, MATHEW CG, PRONK JC, JOENJE H., SAVOIA, ANNA

المساهمون: Waisfisz, Q, Morgan, Nv, Savino, M, DE WINTER, Jp, VAN BERKEL, Cgm, Ianzano, L, Gibson, Ra, Arwert, F, Savoia, Anna, Mathew, Cg, Pronk, Jc, Joenje, H.

Relation: volume:22; firstpage:379; lastpage:383; journal:NATURE GENETICS; http://hdl.handle.net/11368/1701475

الاتاحة: http://hdl.handle.net/11368/1701475

المؤلفون: SCHEPER, GC, VAN DER KLOK, T, VAN ANDEL, RJ, VAN BERKEL, CGM, SISSLER, M, Smet, Joél, MURAVINA, TI, SERKOV, SV, UZIEL, G, BUGIANI, M, SCHIFFMANN, R, KRAGELOH-MANN, I, SMEITINK, JAM, FLORENTZ, C, Van Coster, Rudy, PRONK, JC, VAN DER KNAAP, MS

المصدر: NATURE GENETICS ; ISSN: 1061-4036

مصطلحات موضوعية: Medicine and Health Sciences

Relation: https://biblio.ugent.be/publication/413786; http://hdl.handle.net/1854/LU-413786

الاتاحة: https://biblio.ugent.be/publication/413786
http://hdl.handle.net/1854/LU-413786

المؤلفون: LO TEN FOE J, ROOIMANS MA, BOSNOYAN-COLLINS L, ALON N, WIJKER M, PARKER L, LIGHTFOOT J, CARREAU M, CALLEN DF, SAVOIA A., CHENG NC, VAN BERKEL CGM, STRUNK MHP, GILLE JJP, PALS G, KRUYT FAE, PRONK JC, ARWERT F, BUCHWALD M, JOENJE H

المساهمون: LO TEN FOE, J, Rooimans, Ma, BOSNOYAN-COLLINS, L, Alon, N, Wijker, M, Parker, L, Lightfoot, J, Carreau, M, Callen, Df, Savoia, A., Cheng, Nc, VAN BERKEL, Cgm, Strunk, Mhp, Gille, Jjp, Pals, G, Kruyt, Fae, Pronk, Jc, Arwert, F, Buchwald, M, Joenje, H

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:A1996VQ14600028; volume:14; firstpage:320; lastpage:323; numberofpages:4; journal:NATURE GENETICS; http://hdl.handle.net/11562/1064445

الاتاحة: http://hdl.handle.net/11562/1064445

المؤلفون: LO TEN FOE, J, Rooimans, Ma, BOSNOYAN COLLINS, L, Alon, N, Wijker, M, Parker, L, Lightfoot, J, Carreau, M, Callen, Df, Savoia, Anna, Cheng, Nc, VAN BERKEL CGM, Strunk, Mhp, Gille, Jjp, Pals, G, Kruyt, Fae, Pronk, Jc, Arwert, F, Buchwald, M, Joenje, H.

المساهمون: LO TEN FOE, J, Rooimans, Ma, BOSNOYAN COLLINS, L, Alon, N, Wijker, M, Parker, L, Lightfoot, J, Carreau, M, Callen, Df, Savoia, Anna, Cheng, Nc, VAN BERKEL, Cgm, Strunk, Mhp, Gille, Jjp, Pals, G, Kruyt, Fae, Pronk, Jc, Arwert, F, Buchwald, M, Joenje, H.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::10ee3bae5af4c53d56bf2662967c2f44
https://hdl.handle.net/11368/1701521

المؤلفون: VAN DER KNAAP, MS, VAN BERKEL, CGM, HERMS, J, Van Coster, Rudy, BAETHMANN, M, NAIDU, S, BOLTSHAUSER, E, WILLEMSEN, MAAP, PLECKO, B, HOFFMANN, GF, PROUD, CG, SCHEPER, GC, PRONK, JC

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297

مصطلحات موضوعية: Medicine and Health Sciences

Relation: https://biblio.ugent.be/publication/290415; http://hdl.handle.net/1854/LU-290415

الاتاحة: https://biblio.ugent.be/publication/290415
http://hdl.handle.net/1854/LU-290415

المؤلفون: Joenje, H, Levitus, M, Waisfisz, Q, D'Andrea, A, Garcia-Higuera, I, Pearson, T, van Berkel, CGM, Rooimans, MA, Morgan, N, Mathew, CG, Arwert, F

المصدر: Joenje , H , Levitus , M , Waisfisz , Q , D'Andrea , A , Garcia-Higuera , I , Pearson , T , van Berkel , CGM , Rooimans , MA , Morgan , N , Mathew , CG & Arwert , F 2000 , ' Complementation analysis in Fanconi anemia: Assignment of the reference FA-H patient to group A ' , American journal of human genetics , vol. 67 , no. 3 , pp. 759-762 . https://doi.org/10.1086/303067

الاتاحة: https://research.vumc.nl/en/publications/b7306b2a-e68b-4c28-b422-caeaa6db6705
https://doi.org/10.1086/303067

المؤلفون: de Winter, JP, Rooimans, MA, van der Weel, L, van Berkel, CGM, Alon, N, Bosnoyan-Collins, L, de Groot, J, Zhi, Y, Waisfisz, Q, Pronk, JC, Arwert, F, Mathew, CG, Scheper, RJ, Hoatlin, ME, Buchwald, M, Joenje, H

المصدر: de Winter , JP , Rooimans , MA , van der Weel , L , van Berkel , CGM , Alon , N , Bosnoyan-Collins , L , de Groot , J , Zhi , Y , Waisfisz , Q , Pronk , JC , Arwert , F , Mathew , CG , Scheper , RJ , Hoatlin , ME , Buchwald , M & Joenje , H 2000 , ' The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM ' , Nature Genetics , vol. 24 , no. 1 , pp. 15-16 . https://doi.org/10.1038/71626

الاتاحة: https://research.vumc.nl/en/publications/5d2ca8c9-3970-49f4-b85e-4e7b3ad71298
https://doi.org/10.1038/71626

المؤلفون: de Winter, JP, Waisfisz, Q, Rooimans, MA, van Berkel, CGM, Bosnoyan-Collins, L, Alon, N, Carreau, M, Bender, O, Demuth, I, Schindler, D, Pronk, JC, Arwert, F, Hoehn, H, Digweed, M, Buchwald, M, Joenje, H

المصدر: de Winter , JP , Waisfisz , Q , Rooimans , MA , van Berkel , CGM , Bosnoyan-Collins , L , Alon , N , Carreau , M , Bender , O , Demuth , I , Schindler , D , Pronk , JC , Arwert , F , Hoehn , H , Digweed , M , Buchwald , M & Joenje , H 1998 , ' The Fanconi anaemia group G gene FANCG is identical with XRCC9 ' , Nature Genetics , vol. 20 , no. 3 , pp. 281-283 . https://doi.org/10.1038/3093

الاتاحة: https://research.vumc.nl/en/publications/33c634b6-54b3-4a03-bac0-a0febcaa1485
https://doi.org/10.1038/3093

المؤلفون: van der Knaap MS, Leegwater PAJ, van Berkel CGM, Brenner C, Storey E, Di Rocco M, Salvi F, Pronk JC, van der Knaap, M S, Leegwater, P A J, van Berkel, C G M, Brenner, C, Storey, E, Di Rocco, M, Salvi, F, Pronk, J C

المصدر: Neurology; 2004 May 11, Vol. 62 Issue 9, p1598-1600, 3p