المؤلفون: Bjorkman, K, Vissing, J, Ostergaard, E, Bindoff, LA, de Coo, IFM, Engvall, M, Hikmat, O, Isohanni, P, Kollberg, G, Lindberg, C, Majamaa, K, Naess, K, Uusimaa, J, Tulinius, M, Darin, N

المصدر: Journal of medical genetics. 60(1):65-73

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148310704

المؤلفون: Jennions, E., Olsson‐Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A., Hedberg‐Oldfors, C.

المساهمون: Vetenskapsrådet

المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.63783
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63783

المؤلفون: Björkman, K. (Kristoffer), Vissing, J. (John), Østergaard, E. (Elsebet), Bindoff, L. A. (Laurence A.), de Coo, I. F. (Irenaeus F. M.), Engvall, M. (Martin), Hikmat, O. (Omar), Isohanni, P. (Pirjo), Kollberg, G. (Gittan), Lindberg, C. (Christopher), Majamaa, K. (Kari), Naess, K. (Karin), Uusimaa, J. (Johanna), Tulinius, M. (Mar), Darin, N. (Niklas)

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2023081094597

المؤلفون: Sofou, K, Moslemi, AR, Kollberg, G, Bjarnadottir, I, Oldfors, A, Nennesmo, I, Holme, E, Tulinius, M, Darin, N

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 16(4):379-389

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125048578

المؤلفون: Tarailo-Graovac, M. (Maja), Drögemöller, B.I. (Britt I.), Wasserman, W.W. (Wyeth W.), Ross, C.J., Ouweland, A.M.W. (Ans) van den, Darin, N. (Niklas), Kollberg, G. (Gittan), Van Karnebeek, C.D.M. (Clara D. M.), Blomqvist, M. (Maria)

المصدر: Orphanet journal of rare diseases vol. 12 no. 1

مصطلحات موضوعية: Salla disease, Sialic acid storage disease, SLC17A5, Transposon insertion, Whole exome sequencing

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/97905; urn:hdl:1765/97905

الاتاحة: http://repub.eur.nl/pub/97905
https://doi.org/10.1186/s13023-017-0584-6

المؤلفون: Kollberg, G, Moslemi, AR, Darin, N, Nennesmo, I, Bjamadottir, I, Uvebrant, P, Holme, E, Melberg, A, Tulinius, M, Oldfors, A

المصدر: Journal of neuropathology and experimental neurology. 65(8):758-768

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1938236

المؤلفون: Wing, K, Lindgren, S, Kollberg, G, Lundgren, A, Harris, RA, Rudin, A, Lundin, S, Suri-Payer, E

المصدر: European journal of immunology. 33(3):579-587

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1955392

المؤلفون: PONTARIN, GIOVANNA, FERRARO, PAOLA, RAMPAZZO, CHIARA, KOLLBERG G, HOLME E, REICHARD P, BIANCHI, VERA

المساهمون: Pontarin, Giovanna, Ferraro, Paola, Rampazzo, Chiara, Kollberg, G, Holme, E, Reichard, P, Bianchi, Vera

Relation: info:eu-repo/semantics/altIdentifier/pmid/21297166; info:eu-repo/semantics/altIdentifier/wos/WOS:000288797100024; volume:286; firstpage:11132; lastpage:11140; numberofpages:9; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/11577/2468491; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79953232741

الاتاحة: http://hdl.handle.net/11577/2468491
https://doi.org/10.1074/jbc.M110.202283

المؤلفون: Burda, P, Kuster, A, Hjalmarson, O, Suormala, T, Bürer, C, Lutz, S, Roussey, G, Christa, L, Asin-Cayuela, J, Kollberg, G, Andersson, B A, Watkins, D, Rosenblatt, D S, Fowler, B, Holme, E, Froese, D S, Baumgartner, Matthias R

المصدر: Burda, P; Kuster, A; Hjalmarson, O; Suormala, T; Bürer, C; Lutz, S; Roussey, G; Christa, L; Asin-Cayuela, J; Kollberg, G; Andersson, B A; Watkins, D; Rosenblatt, D S; Fowler, B; Holme, E; Froese, D S; Baumgartner, Matthias R (2015). Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. Journal of Inherited Metabolic Disease, 38(5):863-872.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/118769/1/ZORA_NL_118769.pdf; info:pmid/25633902; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/118769/
https://www.zora.uzh.ch/id/eprint/118769/1/ZORA_NL_118769.pdf

المؤلفون: Kurbacher, C.M., Horn, O., Herz, S., Schweitzer, C., Nymbach, N., Hinz, P., Sperling, S., Kurbacher, J.A., Kollberg, G.

المصدر: Annals of Oncology ; volume 25, page iv531 ; ISSN 0923-7534

الاتاحة: http://dx.doi.org/10.1093/annonc/mdu356.42
https://api.elsevier.com/content/article/PII:S0923753419529234?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0923753419529234?httpAccept=text/plain
http://academic.oup.com/annonc/article-pdf/25/suppl_4/iv531/9692103/mdu356.42.pdf

المؤلفون: Burda, P., Kuster, A., Hjalmarson, O., Suormala, T., Bürer, C., Lutz, S., Roussey, G., Christa, L., Asin-Cayuela, J., Kollberg, G., Andersson, B., Watkins, D., Rosenblatt, D., Fowler, B., Holme, E., Froese, D., Baumgartner, M.

URL: http://doc.rero.ch/record/331707/files/10545_2015_Article_9810.pdf

المؤلفون: Horvath, R., Kemp, J. P., Tuppen, H. A. L., Hudson, G., Oldfors, A., Marie, S. K. N., Moslemi, A.-R., Servidei, S., Holme, E., Shanske, S., Kollberg, G., Jayakar, P., Pyle, A., Marks, H. M., Holinski-Feder, E., Scavina, M., Walter, M. C., Coku, J., Gunther-Scholz, A., Smith, P. M., McFarland, R., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N., Hirano, M., Lochmuller, H., Taylor, R. W., Chinnery, P. F., Tulinius, M., DiMauro, S.

المصدر: Brain ; volume 132, issue 11, page 3165-3174 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awp221
http://academic.oup.com/brain/article-pdf/132/11/3165/932239/awp221.pdf

المؤلفون: Roos, S., Hedberg-Oldfors, C., Visuttijai, K., Kollberg, G., Lindberg, C., Darin, N., Oldfors, A.

المصدر: Neuromuscular Disorders ; volume 30, page S141 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2020.08.321
https://api.elsevier.com/content/article/PII:S0960896620305186?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896620305186?httpAccept=text/plain

المؤلفون: Jennions, E, Hedberg-Oldfors, C, Berglund, AK, Kollberg, G, Törnhage, CJ, Eklund, EA, Oldfors, A, VERLOO, PATRICK, Vanlander, AV, De Meirleir, L, Seneca, S, Sterky, FH, Darin, N

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE ; ISSN: 0141-8955 ; ISSN: 1573-2665

مصطلحات موضوعية: Medicine and Health Sciences, copy-number variation, developmental delay, FAD, rare disease, succinate dehydrogenase, CRISES

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8713559; http://doi.org/10.1002/jimd.12149; https://biblio.ugent.be/publication/8713559/file/01JCGVJ434A9MKAG42CX83NGKK

الاتاحة: https://biblio.ugent.be/publication/8713559
http://hdl.handle.net/1854/LU-8713559
https://doi.org/10.1002/jimd.12149
https://biblio.ugent.be/publication/8713559/file/01JCGVJ434A9MKAG42CX83NGKK

المؤلفون: Darin, N., Hedberg‐Oldfors, C., Kroksmark, A.‐K., Moslemi, A.‐R., Kollberg, G., Oldfors, A.

المساهمون: American Liver Foundation, Västra Götalandsregionen

المصدر: European Journal of Neurology ; volume 24, issue 4, page 587-593 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.13249
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fene.13249
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.13249

المؤلفون: Darin, N., Hedberg-Oldfors, C., Kroksmark, A., Moslemi, A., Kollberg, G., Oldfors, A.

المصدر: Neuromuscular Disorders ; volume 27, page S119 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2017.06.101
https://api.elsevier.com/content/article/PII:S0960896617306740?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896617306740?httpAccept=text/plain

المؤلفون: Roos, S., Sofou, K., Hedberg-Oldfors, C., Kollberg, G., Lindgren, U., Thomsen, C., Asin-Cayuela, J., Tulinius, M., Oldfors, A.

المصدر: Neuromuscular Disorders ; volume 27, page S118 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2017.06.096
https://api.elsevier.com/content/article/PII:S0960896617306697?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896617306697?httpAccept=text/plain

المؤلفون: Tulinius, M., Kollberg, G., Darin, N., Oldfors, A., Asin-Cayuela, J.

المصدر: Neuromuscular Disorders ; volume 26, page S175 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2016.06.324
https://api.elsevier.com/content/article/PII:S0960896616306174?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896616306174?httpAccept=text/plain

المؤلفون: Melberg, A, Nennesmo, I, Moslemi, AR, Kollberg, G, Luoma, P, Suomalainen, A, Holme, E, Oldfors, A

المصدر: Acta neuropathologica. 110(3):315-316

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:111472681

المؤلفون: Tarailo-Graovac, M, Drogemoller, BI, Wasserman, WW, Ross, CJD, van den Ouweland, Ans, Darin, N, Kollberg, G, van Karnebeek, CDM, Blomqvist, M

المصدر: Tarailo-Graovac , M , Drogemoller , BI , Wasserman , WW , Ross , CJD , van den Ouweland , A , Darin , N , Kollberg , G , van Karnebeek , CDM & Blomqvist , M 2017 , ' Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease ' , Orphanet Journal of Rare Diseases , vol. 12 , 28 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, article

URL: https://pure.eur.nl/en/publications/b784a33d-a929-4753-ad56-08250489aceb