المؤلفون: Winter, SF, Walsh, D, Catsman-Berrevoets, C, Feigin, V, Destrebecq, F, Dickson, SL, Leonardi, M, Hoemberg, V, Tassorelli, C, Ferretti, MT, De, A, Chadha, AS, Lynch, C, Bakhtadze, S, Saylor, D, Hwang, S, Rostasy, K, Kluger, BM, Wright, C, Zee, PC, Dodick, DW, Jaarsma, J, Owolabi, M, Zaletel, J, Albreht, T, Dhamija, RK, Helme, A, Laurson-Doube, J, Amos, A, Baingana, FK, Baker, GA, Sofia, F, Galvin, O, Hawrot, T

المصدر: The Lancet. Global health. 12(4):e697-e706

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:158240384Test

المؤلفون: Roodbol, Joyce, Korinthenberg, Rudolf, Venema, Esmee, de Wit, M. C.Y., Lingsma, Hester F., Catsman-Berrevoets, Coriene E., Jacobs, B. C., Korinthenberg, R., Catsman-Berrevoets, C. E., Engelen, M., Erasmus, C. E., Geleijns, C. P.W., Kotsopoulos, I. A.W., Nicolai, J., Niermeijer, J. M.F., Niks, E. H., Samijn, J.

المصدر: the Working Group GBS in Children in Germany , Austria and Switzerland and the Dutch Pediatric GBS Study Group , Roodbol , J , Korinthenberg , R , Venema , E , de Wit , M C Y , Lingsma , H F , Catsman-Berrevoets , C E , Jacobs , B C , Korinthenberg , R , Roodbol , J , de Wit , M C Y , Catsman-Berrevoets , C E , Jacobs , B C , Engelen , M , Erasmus , C E , Geleijns , C P W , Kotsopoulos , I A W ....

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/b91687a1-ebaa-417b-99d9-51a996568e1dTest

الإتاحة: https://doi.org/10.1016/j.ejpn.2023.02.007Test
https://pure.eur.nl/en/publications/b91687a1-ebaa-417b-99d9-51a996568e1dTest
https://pure.eur.nl/ws/files/146018221/1-s2.0-S1090379823000314-main.pdfTest
http://www.scopus.com/inward/record.url?scp=85150029927&partnerID=8YFLogxKTest

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

العلاقة: 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/11368/2980250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135Test

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
http://hdl.handle.net/11368/2980250Test
https://academic.oup.com/jcem/article/106/2/e660/5917135Test

المؤلفون: Eijk, S., Mous, S. E., Dieleman, G. C., Dierckx, B., Rietman, A. B., de Nijs, P. F. A., ten Hoopen, L. W., van Minkelen, R., Elgersma, Y., Catsman-Berrevoets, C. E., Oostenbrink, R., Legerstee, J. S.

المصدر: Journal of Autism and Developmental Disorders. Jul 2018 48(7):2278-2285.

تمت مراجعته من قبل الزملاء: Y

Page Count: 8

الواصفات: Autism, Pervasive Developmental Disorders, Children, Neurological Impairments, Incidence, Diagnostic Tests, Observation, Prediction, Foreign Countries, Cognitive Development, Intelligence Tests, Young Children, Statistical Analysis

مصطلحات جغرافية: Netherlands

معرفات التقييم و الدراسة: Autism Diagnostic Observation Schedule, Wechsler Preschool and Primary Scale of Intelligence

المؤلفون: Helfferich, Jelte, Bruijstens, Arlette L., Wong, Yu Yi M., Danielle van Pelt, E., Boon, Maartje, Neuteboom, Rinze F., Bakker, D. P., Braun, K. P.J., van Dijk, K. G.J., Eikelenboom, M. J., Engelen, M., Brandsma, R., Haaxma, C. A., Niermeijer, J. M.F., Niks, E. H., Peeters, E. A.J., Peeters-Scholte, C. M.P.C.D., Portier, R. P., de Rijk-van Andel, J. F., Samijn, J. P.A., Schippers, H. M., Sie, L. T.L., Snoeck, I. N., Vermeulen, R. J., Verrips, A., Visscher, F., Willemsen, M. A.A.P., Catsman-Berrevoets, C. E.

المصدر: Helfferich , J , Bruijstens , A L , Wong , Y Y M , Danielle van Pelt , E , Boon , M , Neuteboom , R F , Bakker , D P , Braun , K P J , van Dijk , K G J , Eikelenboom , M J , Engelen , M , Brandsma , R , Haaxma , C A , Niermeijer , J M F , Niks , E H , Peeters , E A J , Peeters-Scholte , C M P C D , Portier , R P , de Rijk-van Andel ....

العلاقة: https://research.vumc.nl/en/publications/3d5c1bc2-1908-492c-ad49-3b66c0539383Test

الإتاحة: https://doi.org/10.1016/j.braindev.2020.12.019Test
https://research.vumc.nl/en/publications/3d5c1bc2-1908-492c-ad49-3b66c0539383Test
http://www.scopus.com/inward/record.url?scp=85099805385&partnerID=8YFLogxKTest

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, 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, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; 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, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700Test SGUL Authors: McEntagart, Meriel

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://openaccess.sgul.ac.uk/id/eprint/113253Test/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest

المؤلفون: Owolabi M. O., Leonardi M., Bassetti C., Jaarsma J., Hawrot T., Makanjuola A. I., Dhamija R. K., Feng W., Straub V., Camaradou J., Dodick D. W., Sunna R., Menon B., Wright C., Lynch C., Chadha A. S., Ferretti M. T., De A., Catsman-Berrevoets C. E., Gichu M., Tassorelli C., Oliver D., Paulus W., Mohammed R. K., Charway-Felli A., Rostasy K., Feigin V., Craven A., Cunningham E., Galvin O., Perry A. H., Fink E. L., Baneke P., Helme A., Laurson-Doube J., Medina M. T., Roa J. D., Hogl B., O'Bryan A., Trenkwalder C., Wilmshurst J., Akinyemi R. O., Yaria J. O., Good D. C., Hoemberg V., Boon P., Wiebe S., Cross J. H., Haas M., Jabalpurwala I., Mojasevic M., DiLuca M., Barbarino P., Clarke S., Zuberi S. M., Olowoyo P., Owolabi A., Oyesiku N., Maly-Sundgren P. C., Norrving B., Soekadar S. R., van Doorn P. A., Lewis R., Solomon T., Servadei F.

المساهمون: M.O. Owolabi, M. Leonardi, C. Bassetti, J. Jaarsma, T. Hawrot, A.I. Makanjuola, R.K. Dhamija, W. Feng, V. Straub, J. Camaradou, D.W. Dodick, R. Sunna, B. Menon, C. Wright, C. Lynch, A.S. Chadha, M.T. Ferretti, A. De, C.E. Catsman-Berrevoet, M. Gichu, C. Tassorelli, D. Oliver, W. Paulu, R.K. Mohammed, A. Charway-Felli, K. Rostasy, V. Feigin, A. Craven, E. Cunningham, O. Galvin, A.H. Perry, E.L. Fink, P. Baneke, A. Helme, J. Laurson-Doube, M.T. Medina, J.D. Roa, B. Hogl, A. O'Bryan, C. Trenkwalder, J. Wilmshurst, R.O. Akinyemi, J.O. Yaria, D.C. Good, V. Hoemberg, P. Boon, S. Wiebe, J.H. Cro, M. Haa, I. Jabalpurwala, M. Mojasevic, M. Diluca, P. Barbarino, S. Clarke, S.M. Zuberi, P. Olowoyo, A. Owolabi, N. Oyesiku, P.C. Maly-Sundgren, B. Norrving, S.R. Soekadar, P.A. van Doorn, R. Lewi, T. Solomon, F. Servadei

مصطلحات موضوعية: Settore BIO/14 - Farmacologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37208496; info:eu-repo/semantics/altIdentifier/wos/WOS:000992678100002; firstpage:1; lastpage:13; numberofpages:13; journal:NATURE REVIEWS. NEUROLOGY; https://hdl.handle.net/2434/971653Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85159683546

الإتاحة: https://doi.org/10.1038/s41582-023-00808-zTest
https://hdl.handle.net/2434/971653Test

المؤلفون: Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, Brouwer, O. F., Buerk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E., Sival, D. A.

المصدر: Brandsma , R , Verschuuren-Bemelmans , C C , Amrom , D , Barisic , N , Baxter , P , Bertini , E , Blumkin , L , Brankovic-Sreckovic , , Brouwer , O F , Buerk , K , Catsman-Berrevoets , C E , Craiu , D , de Coo , I F M , Gburek , J , Kennedy , C , de Koning , T J , Kremer , H P H , Kumar , R , Macaya , A , Micalizzi , A , Mirabelli-Badenier , M , Nemeth , A , Nuovo , ....

مصطلحات موضوعية: Early Onset Ataxia, Child, Algorithm, NGS techniques, Cerebellum, Diagnosis, VITAMIN-E-DEFICIENCY, OCULOMOTOR APRAXIA TYPE-2, FOLLOW-UP, RATING-SCALE, CEREBROTENDINOUS XANTHOMATOSIS, DIFFERENTIAL-DIAGNOSIS, SPASTIC PARAPLEGIA, CHILDREN, GENE, MUTATIONS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/2a948692-2a39-454b-91a4-45a7d9017467Test

الإتاحة: https://doi.org/10.1016/j.ejpn.2019.08.004Test
https://hdl.handle.net/11370/2a948692-2a39-454b-91a4-45a7d9017467Test
https://research.rug.nl/en/publications/2a948692-2a39-454b-91a4-45a7d9017467Test
https://pure.rug.nl/ws/files/122115431/A_clinical_diagnostic_algorithm_for_early_onset.pdfTest

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 ....

العلاقة: https://research.vumc.nl/en/publications/04a2404f-7cb7-4df7-b4a2-1534ce0cab31Test

الإتاحة: https://doi.org/10.1007/s00415-018-8835-6Test
https://research.vumc.nl/en/publications/04a2404f-7cb7-4df7-b4a2-1534ce0cab31Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85044322754&origin=inwardTest
https://www.ncbi.nlm.nih.gov/pubmed/29569176Test

المؤلفون: Eijk, S., Mous, S. E., Dieleman, G. C., Dierckx, B., Rietman, A. B., de Nijs, P. F. A., ten Hoopen, L. W., van Minkelen, R., Elgersma, Y., Catsman-Berrevoets, C. E., Oostenbrink, R., Legerstee, J. S.

المساهمون: Sophia Children’s Hospital Fund

المصدر: Journal of Autism and Developmental Disorders ; volume 48, issue 7, page 2278-2285 ; ISSN 0162-3257 1573-3432

مصطلحات موضوعية: Developmental and Educational Psychology

الإتاحة: https://doi.org/10.1007/s10803-018-3478-0Test