المؤلفون: Grünert, S.C., Derks, T.G., Mundy, H., Dalton, R.N., Donadieu, J., Hofbauer, P., Jones, N., Uçar, S.K., LaFreniere, J., Contreras, E.L., Pendyal, S., Rossi, A, Schneider, B., Spiegel, R., Stepien, K.M., Wesol-Kucharska, D., Veiga-da-Cunha, M., Wortmann, S.B.

المصدر: Molecular Genetics and Metabolism, 141, 3, pp. 108144

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders Paediatrics

Relation: https://repository.ubn.ru.nl/handle/2066/305091

الاتاحة: https://repository.ubn.ru.nl/handle/2066/305091
https://doi.org/10.1016/j.ymgme.2024.108144

المؤلفون: Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS

المصدر: Annals of Clinical and Translational Neurology, March 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/256111; https://eprints.ncl.ac.uk/fulltext.aspx?url=256111/8D0290AB-E61B-4E00-9012-392ACDBED54B.pdf&pub_id=256111

الاتاحة: https://eprints.ncl.ac.uk/256111

المؤلفون: Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS

Relation: pii: ACN3780; Hayhurst, H., de Coo, I. F. M., Piekutowska-Abramczuk, D., Alston, C. L., Sharma, S., Thompson, K., Rius, R., He, L., Hopton, S., Ploski, R., Ciara, E., Lake, N. J., Compton, A. G., Delatycki, M. B., Verrips, A., Bonnen, P. E., Jones, S. A., Morris, A. A., Shakespeare, D. ,. Ng, Y. S. (2019). Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019). ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 6 (4), pp.821-821. https://doi.org/10.1002/acn3.780.; http://hdl.handle.net/11343/271489

الاتاحة: http://hdl.handle.net/11343/271489

المؤلفون: Błońska, M., Friedman-Gruszczyńska, J., Sibilska, M., Laskowska, J., Wesół-Kucharska, D., Gawecka, A., Janusz Ksiazyk

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::394a30379b9a4c43952416a2006989f5
http://www.scopus.com/inward/record.url?eid=2-s2.0-67849092738&partnerID=MN8TOARS

المؤلفون: Wesół-Kucharska, D., Ksia̧zyk, J.

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0c16432e766f90ff7c6fdbc8ebee3663
http://www.scopus.com/inward/record.url?eid=2-s2.0-80052250442&partnerID=MN8TOARS

المؤلفون: Wesół-Kucharska, D., Laskowska, J., Sibilska, M., Friedman-Gruszczyńska, J., Błońska, M., Gawecka, A., Czech-Kowalska, J., Dobrzańska, A., Janusz Ksiazyk, Swietliński, J.

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6377f11db4a335730f06d092da137f1e
http://www.scopus.com/inward/record.url?eid=2-s2.0-67849090829&partnerID=MN8TOARS

المؤلفون: Wesół-Kucharska, D., Laskowska, J., Wieteska-Klimczak, A., Krasińska, M., Bacewicz, L., Ksia̧zyk, J.

المصدر: Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::de700562a07df4fe81f9159b3cd464b3
http://www.scopus.com/inward/record.url?eid=2-s2.0-77958473960&partnerID=MN8TOARS