المؤلفون: Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW

المصدر: Neuromuscular Disorders, September 2019

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/260131; https://eprints.ncl.ac.uk/fulltext.aspx?url=260131/3AB2BBBE-49F1-49A4-932D-C2F02867E313.pdf&pub_id=260131

الاتاحة: https://eprints.ncl.ac.uk/260131

المؤلفون: Sallevelt SCEH, de Die-Smulders CEM, Hendrickx ATM, Hellebrekers DMEI, de Coo IFM, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJM

المصدر: Journal of Medical Genetics, July 22, 2016

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/235982; https://eprints.ncl.ac.uk/fulltext.aspx?url=235982/128DAC91-A825-455C-88E0-48F3AC168F81.pdf&pub_id=235982

الاتاحة: https://eprints.ncl.ac.uk/235982

المؤلفون: Gerards, M (Mike), Sluiter, Wim, van den Bosch, BJC, Wit, Elly, Calis, CMH, Frentzen, M, Akbari, H, Schoonderwoerd, Kees, Scholte, Jasper, Jongbloed, RJ, Hendrickx, ATM, Coo, IFM, Smeets, HJM

المصدر: Gerards , M , Sluiter , W , van den Bosch , BJC , Wit , E , Calis , CMH , Frentzen , M , Akbari , H , Schoonderwoerd , K , Scholte , J , Jongbloed , RJ , Hendrickx , ATM , Coo , IFM & Smeets , HJM 2010 , ' Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome ' , Journal of Medical Genetics , vol. 47 , no. 8 , pp. 507-512 . https://doi.org/10.1136/jmg.2009.067553

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/d288bc72-e859-416c-bef2-d28471e5c895
https://doi.org/10.1136/jmg.2009.067553
https://pure.eur.nl/ws/files/46923567/19542079_OA.pdf
http://hdl.handle.net/1765/27324

المؤلفون: van Eijsden, RGE, Gerards, M, Eijssen, LMT, Hendrickx, ATM, Jongbloed, RJE, Wokke, JHJ, Hintzen, Rogier, Rubio-Gozalbo, ME, Coo, IFM, Briem, E, Tiranti, V, Smeets, HJM

المصدر: van Eijsden , RGE , Gerards , M , Eijssen , LMT , Hendrickx , ATM , Jongbloed , RJE , Wokke , JHJ , Hintzen , R , Rubio-Gozalbo , ME , Coo , IFM , Briem , E , Tiranti , V & Smeets , HJM 2006 , ' Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients ' , Genetics in Medicine , vol. 8 , no. 10 , pp. 620-627 . https://doi.org/10.1097/01.gim.0000237782.94878.05

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/82460736-0b20-4d76-a11e-db83c87ba77e
https://doi.org/10.1097/01.gim.0000237782.94878.05
https://pure.eur.nl/ws/files/46703260/gim2006103a.pdf
http://hdl.handle.net/1765/73164

المؤلفون: Hellebrekers, DM, Sallevelt, S, Theunissen, T E J, Hendrickx, ATM, Gottschalk, RW, Hoeijmakers, JGJ (Janneke), Habets, DD, Bierau, J, Schoonderwoerd, Kees, Smeets, HJM

المصدر: Hellebrekers , DM , Sallevelt , S , Theunissen , T E J , Hendrickx , ATM , Gottschalk , RW , Hoeijmakers , JGJ , Habets , DD , Bierau , J , Schoonderwoerd , K & Smeets , HJM 2017 , ' Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype ' , European Journal of Human Genetics , vol. 25 , no. 7 , pp. 886-888 . https://doi.org/10.1038/ejhg.2017.62

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

الاتاحة: https://pure.eur.nl/en/publications/9e8fd374-687d-461e-88c5-f400fdc7aee1
https://doi.org/10.1038/ejhg.2017.62
http://hdl.handle.net/1765/100447

المؤلفون: Sallevelt, S, de Die-Smulders, CEM, Hendrickx, ATM, Hellebrekers, D, Coo, IFM, Alston, CL, Knowles, C, Taylor, RW, McFarland, R, Smeets, HJM

المصدر: Sallevelt , S , de Die-Smulders , CEM , Hendrickx , ATM , Hellebrekers , D , Coo , IFM , Alston , CL , Knowles , C , Taylor , RW , McFarland , R & Smeets , HJM 2017 , ' De novo mtDNA point mutations are common and have a low recurrence risk ' , Journal of Medical Genetics , vol. 54 , no. 2 , pp. 114-124 . https://doi.org/10.1136/jmedgenet-2016-103876

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

الاتاحة: https://pure.eur.nl/en/publications/b966d575-f00a-461a-8877-8a88c99a6cf0
https://doi.org/10.1136/jmedgenet-2016-103876
http://hdl.handle.net/1765/97641

المؤلفون: Theunissen, T E J, Sallevelt, S, Hellebrekers, D, de Koning, B, Hendrickx, ATM, van den Bosch, BJC, Kamps, R, Schoonderwoerd, Kees, Szklarczyk, R, den Hartog, NM (Elvira), Coo, IFM, Smeets, HJM

المصدر: Theunissen , T E J , Sallevelt , S , Hellebrekers , D , de Koning , B , Hendrickx , ATM , van den Bosch , BJC , Kamps , R , Schoonderwoerd , K , Szklarczyk , R , den Hartog , NM , Coo , IFM & Smeets , HJM 2017 , ' Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing ' , Journal of Pediatrics , vol. 182 , pp. 371-374 . https://doi.org/10.1016/j.jpeds.2016.12.032

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

الاتاحة: https://pure.eur.nl/en/publications/5a57fced-f79d-4c31-891a-de7506dc3bae
https://doi.org/10.1016/j.jpeds.2016.12.032
http://hdl.handle.net/1765/98304

المؤلفون: Hellebrekers, DMEI, Wolfe, R, Hendrickx, ATM, Coo, IFM, Die, Lya, Geraedts, JPM, Chinnery, PF, Smeets, HJM

المصدر: Hellebrekers , DMEI , Wolfe , R , Hendrickx , ATM , Coo , IFM , Die , L , Geraedts , JPM , Chinnery , PF & Smeets , HJM 2012 , ' PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring ' , Human Reproduction Update , vol. 18 , no. 4 , pp. 341-349 . https://doi.org/10.1093/humupd/dms008

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

الاتاحة: https://pure.eur.nl/en/publications/274c275d-0b6b-4eb9-a764-3bbd4b76321e
https://doi.org/10.1093/humupd/dms008
http://hdl.handle.net/1765/73519

المؤلفون: Spruijt, L, Hoogendijk, JE, Hendrickx, ATM, Coo, IFM, Doevendans, PA, de Jong, PTVM (Paulus), Spliet, WGM, Kroes, H, Smeets, HJ

المصدر: Spruijt , L , Hoogendijk , JE , Hendrickx , ATM , Coo , IFM , Doevendans , PA , de Jong , PTVM , Spliet , WGM , Kroes , H & Smeets , HJ 2006 , ' Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON ' , American Journal of Medical Genetics Part A , vol. 140A , no. 13 , pp. 1478-1481 . https://doi.org/10.1002/ajmg.a.31324

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016401, name=EMC NIHES-01-64-01

الاتاحة: https://pure.eur.nl/en/publications/7bf429ad-d9e8-4bed-a323-31a1e6fc9674
https://doi.org/10.1002/ajmg.a.31324
http://hdl.handle.net/1765/53798

المؤلفون: van den Bosch, BJC, Coo, IFM, Hendrickx, ATM, Busch, HFM (Herman), de Jong, G (Gerard), Scholte, Jasper, Smeets, HJM

المصدر: van den Bosch , BJC , Coo , IFM , Hendrickx , ATM , Busch , HFM , de Jong , G , Scholte , J & Smeets , HJM 2004 , ' Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene ' , Neuromuscular Disorders , vol. 14 , pp. 683-688 . https://doi.org/10.1016/j.nmd.2004.06.004

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR014301, name=EMC COEUR-01-43-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM044402, name=EMC MM-04-44-02

الاتاحة: https://pure.eur.nl/en/publications/684b28a9-84d0-483f-9dc4-6ae388e9f8af
https://doi.org/10.1016/j.nmd.2004.06.004
http://hdl.handle.net/1765/62910

المؤلفون: Hellebrekers DMEI, Wolfe R, Hendrickx ATM, de Coo IFM, de Die CE, Geraedts JPM, Chinnery PF, Smeets HJM

المصدر: Human Reproduction Update, 28-03-2012

Relation: https://eprints.ncl.ac.uk/186900

الاتاحة: https://eprints.ncl.ac.uk/186900