المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135

الاتاحة: http://hdl.handle.net/11368/2980250
https://doi.org/10.1210/clinem/dgaa700
https://academic.oup.com/jcem/article/106/2/e660/5917135

المؤلفون: de Mol, C. L., Wong, Y. Y. M., van Pelt, E. D., Ketelslegers, I. A., Bakker, D. P., Boon, M., Braun, K. P. J., van Dijk, K. G. J., Eikelenboom, M. J., Engelen, M., Geleijns, K., Haaxma, C. A., Niermeijer, J. M. F., Niks, E. H., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P. A., Schippers, H. M., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Visscher, F., Vles, J. S. H., Willemsen, M. A. A. P., Catsman-Berrevoets, C. E., Hintzen, R. Q., Neuteboom, R. F.

المصدر: de Mol , C L , Wong , Y Y M , van Pelt , E D , Ketelslegers , I A , Bakker , D P , Boon , M , Braun , K P J , van Dijk , K G J , Eikelenboom , M J , Engelen , M , Geleijns , K , Haaxma , C A , Niermeijer , J M F , Niks , E H , Peeters , E A J , Peeters-Scholte , C M P C D , Poll-The , B T , Portier , R P , de ....

الاتاحة: https://research.vumc.nl/en/publications/04a2404f-7cb7-4df7-b4a2-1534ce0cab31
https://doi.org/10.1007/s00415-018-8835-6
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85044322754&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/29569176

المؤلفون: Timmers, E R, Kuiper, A, Smit, M, Bartels, A L, Kamphuis, D J, Wolf, N I, Poll-The, B T, Wassenberg, T, Peeters, E A J, de Koning, T J, Tijssen, M A J

المصدر: Timmers , E R , Kuiper , A , Smit , M , Bartels , A L , Kamphuis , D J , Wolf , N I , Poll-The , B T , Wassenberg , T , Peeters , E A J , de Koning , T J & Tijssen , M A J 2017 , ' Non-motor symptoms and quality of life in dopa-responsive dystonia patients ' , Parkinsonism & Related Disorders , vol. 45 , pp. 57-62 . https://doi.org/10.1016/j.parkreldis.2017.10.005

مصطلحات موضوعية: Journal Article, VALIDITY, DISEASE, CYCLOHYDROLASE-I GENE, RATING-SCALE, RELIABILITY, DEFICIENCY, DISORDERS, MUTATIONS, PHENOTYPE, SEROTONIN

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/47c78808-2e0d-4db4-8fa5-c90dbbe339d4

الاتاحة: https://hdl.handle.net/11370/47c78808-2e0d-4db4-8fa5-c90dbbe339d4
https://research.rug.nl/en/publications/47c78808-2e0d-4db4-8fa5-c90dbbe339d4
https://doi.org/10.1016/j.parkreldis.2017.10.005
https://pure.rug.nl/ws/files/62158257/Non_motor_symptoms_and_quality_of_life_in_dopa_responsive_dystonia_patients.pdf

المؤلفون: Ketelslegers, I. A., Catsman-Berrevoets, C. E., Neuteboom, R. F., Boon, M., van Dijk, K. G. J., Eikelenboom, M. J., Gooskens, R. H. J. M., Niks, E. H., Overweg-Plandsoen, W. C. G., Peeters, E. A. J., Peeters-Scholte, C. M. P. C. D., Poll-The, B. T., de Rijk-van Andel, J. F., Samijn, J. P. A., Snoeck, I. N., Stroink, H., Vermeulen, R. J., Verrips, A., Vles, J. S. H., Willemsen, Marc, Pereira, R. Rodrigues, Hintzen, R. Q.

المصدر: Ketelslegers , I A , Catsman-Berrevoets , C E , Neuteboom , R F , Boon , M , van Dijk , K G J , Eikelenboom , M J , Gooskens , R H J M , Niks , E H , Overweg-Plandsoen , W C G , Peeters , E A J , Peeters-Scholte , C M P C D , Poll-The , B T , de Rijk-van Andel , J F , Samijn , J P A , Snoeck , I N , Stroink , H , Vermeulen , R J , Verrips , A , ....

مصطلحات موضوعية: Multiple sclerosis, Demyelinating diseases, Incidence, Pediatric

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/5d3396b2-9c90-459d-ae1c-7580cbefc605
https://doi.org/10.1007/s00415-012-6441-6

المؤلفون: Namavar, Y., Barth, P. G., Baas, F., Poll-The, B. T.

المصدر: Brain ; volume 135, issue 1, page e200-e200 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awr109
http://academic.oup.com/brain/article-pdf/135/1/e200/922275/awr109.pdf

المؤلفون: Leen, W. G., Klepper, J., Verbeek, M. M., Leferink, M., Hofste, T., van Engelen, B. G., Wevers, R. A., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., van Bogaert, P., Carrilho, I., Chabrol, B., Champion, M. P., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A., Ebinger, F., Farrell, K., Forsyth, R. J., de Goede, C. G. E. L., Gross, S., Grunewald, S., Holthausen, H., Jayawant, S., Lachlan, K., Laugel, V., Leppig, K., Lim, M. J., Mancini, G., Marina, A. D., Martorell, L., McMenamin, J., Meuwissen, M. E. C., Mundy, H., Nilsson, N. O., Panzer, A., Poll-The, B. T., Rauscher, C., Rouselle, C. M. R., Sandvig, I., Scheffner, T., Sheridan, E., Simpson, N., Sykora, P., Tomlinson, R., Trounce, J., Webb, D.

المصدر: Brain ; volume 133, issue 3, page 655-670 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awp336
http://academic.oup.com/brain/article-pdf/133/3/655/769787/awp336.pdf

المؤلفون: Blok, M J, van den Bosch, B J, Jongen, E, Hendrickx, A, de Die-Smulders, C E, Hoogendijk, J E, Brusse, E, de Visser, M, Poll-The, B T, Bierau, J, de Coo, I F, Smeets, H J

مصطلحات موضوعية: Mutation reports

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/46/11/776; http://dx.doi.org/10.1136/jmg.2009.067686

الاتاحة: http://jmg.bmj.com/cgi/content/short/46/11/776
https://doi.org/10.1136/jmg.2009.067686

المؤلفون: Stam, A H, Luijckx, G-J, Poll-Thé, B T, Ginjaar, I B, Frants, R R, Haan, J, Ferrari, M D, Terwindt, G M, van den Maagdenberg, A M J M

مصطلحات موضوعية: Research papers

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/80/10/1125; http://dx.doi.org/10.1136/jnnp.2009.177279

الاتاحة: http://jnnp.bmj.com/cgi/content/short/80/10/1125
https://doi.org/10.1136/jnnp.2009.177279

المؤلفون: Barth, P. G., Majoie, C. B., Caan, M. W.A., Weterman, M. A.J., Kyllerman, M., Smit, L. M.E., Kaplan, R. A., Haas, R. H., Baas, F., Cobben, J.-M., Poll-The, B. T.

المصدر: Brain ; volume 130, issue 9, page 2258-2266 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awm188
http://academic.oup.com/brain/article-pdf/130/9/2258/827382/awm188.pdf

المؤلفون: Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J. A., Rijkers, G. T., Duran, M., Kuijpers, T. W., van Luijk, W., Poll-The, B. T., Kuis, W.

مصطلحات موضوعية: Paediatric Rheumatology

وصف الملف: text/html

Relation: http://rheumatology.oxfordjournals.org/cgi/content/short/40/5/579; http://dx.doi.org/10.1093/rheumatology/40.5.579

الاتاحة: http://rheumatology.oxfordjournals.org/cgi/content/short/40/5/579
https://doi.org/10.1093/rheumatology/40.5.579

المؤلفون: BOLTSHAUSER, EUGEN J, MARIA, BERNARD L, VAN ROYEN-KERKHOF, A, POLL-THE, B T, BEEMER, F A

مصطلحات موضوعية: Letters to the editor

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/36/11/870; http://dx.doi.org/10.1136/jmg.36.11.870

الاتاحة: http://jmg.bmj.com/cgi/content/short/36/11/870
https://doi.org/10.1136/jmg.36.11.870

المؤلفون: Sjarif, D R, Sinke, R J, Duran, M, Beemer, F A, Kleijer, W J, Ploos van Amstel, J K, Poll-The, B T

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/35/8/650; http://dx.doi.org/10.1136/jmg.35.8.650

الاتاحة: http://jmg.bmj.com/cgi/content/short/35/8/650
https://doi.org/10.1136/jmg.35.8.650

المؤلفون: van Royen-Kerkhof, A, Poll-The, B T, Kleijer, W J, van Diggelen, O P, Aerts, J M, Hopwood, J J, Beemer, F A

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/35/11/965; http://dx.doi.org/10.1136/jmg.35.11.965

الاتاحة: http://jmg.bmj.com/cgi/content/short/35/11/965
https://doi.org/10.1136/jmg.35.11.965

المؤلفون: De Meer, K, Roef, M J, Poll-The, B T, De Klerk, J BC, Bakker, H D, Berger, R

المصدر: Pediatric Research ; volume 41, page 102-102 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199704001-00618

المؤلفون: Bergman, A. J.I.W., Van Der Knaap, M. S., Smeitink, J. A.M., Duran, M., Dorland, L., Valk, J., Poll-The, B. T.

المصدر: Bergman , A J I W , Van Der Knaap , M S , Smeitink , J A M , Duran , M , Dorland , L , Valk , J & Poll-The , B T 1996 , ' Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia : Clinical and biochemical considerations ' , Pediatric Research , vol. 40 , no. 3 , pp. 404-409 . https://doi.org/10.1203/00006450-199609000-00007

الاتاحة: https://research.vumc.nl/en/publications/bcbe61a1-c943-4938-a2a8-4d597b850c1a
https://doi.org/10.1203/00006450-199609000-00007
http://www.scopus.com/inward/record.url?scp=0029787140&partnerID=8YFLogxK

المؤلفون: de Meer, K, Jeneson, J A L, de Koning, T J, Poll-The, B T, Berger, R

المصدر: Pediatric Research ; volume 39, page 144-144 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199604001-00870

المؤلفون: Bergman, A J I W, Donckerwolcke, R A M G, Duran, M, Smeitink, J A M, Mousson, B, Vianey-Saban, C, Poll-The, B T

المصدر: Pediatric Research ; volume 36, issue 5, page 582-587 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-199411000-00007

المؤلفون: Klouwer, F. C. C., Meester-Delver, A., Vaz, F. M., Waterham, H. R., Hennekam, R. C. M., Poll-The, B. T.

المساهمون: APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Rehabilitation medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatric Genetics, Paediatric Neurology, APH - Personalized Medicine, APH - Methodology

المصدر: Clinical Genetics, 93(3), 613-621. Wiley-Blackwell
Clinical genetics, 93(3), 613-621. Wiley-Blackwell

مصطلحات موضوعية: nervous system, macromolecular substances

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b16eaa1345dafca12d056a6c534397fb
https://research.vumc.nl/en/publications/f5af8512-40d8-4c69-8d29-e6c1b80a4e51

المؤلفون: Konigs, M., van Heurn, L. W. E., Vermeulen, R. J., Goslings, J. C., Luitse, J. S. K., Poll-The, B. T., Beelen, A., van der Wees, M., Kemps, R. J. J. K., Catsman-Berrevoets, C. E., Luman, M., Oosterlaan, J.

المصدر: Konigs , M , van Heurn , L W E , Vermeulen , R J , Goslings , J C , Luitse , J S K , Poll-The , B T , Beelen , A , van der Wees , M , Kemps , R J J K , Catsman-Berrevoets , C E , Luman , M & Oosterlaan , J 2016 , ' Feedback learning and behavior problems after pediatric traumatic brain injury ' , Psychological Medicine , vol. 46 , no. 7 , pp. 1473-1484 . https://doi.org/10.1017/S0033291716000106

الاتاحة: https://research.vumc.nl/en/publications/2522f672-075d-4cb1-8355-342da28006b6
https://doi.org/10.1017/S0033291716000106

المؤلفون: Jaeger, B., Abeling, N. G., Salomons, G. S., Struys, E. A., Simas-Mendes, M., Geukers, V. G., Poll-The, B. T.

المصدر: Jaeger , B , Abeling , N G , Salomons , G S , Struys , E A , Simas-Mendes , M , Geukers , V G & Poll-The , B T 2016 , ' Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation ' , Molecular Genetics and Metabolism Reports , vol. 6 , pp. 60-63 . https://doi.org/10.1016/j.ymgmr.2016.01.004

الاتاحة: https://research.vumc.nl/en/publications/9369c268-4251-4d32-a9d2-df2274b69913
https://doi.org/10.1016/j.ymgmr.2016.01.004
http://www.scopus.com/inward/record.url?scp=84957837241&partnerID=8YFLogxK