المؤلفون: von Scheibler, Emma N.M.M., van Eeghen, Agnies M., de Koning, Tom J., Kuijf, Mark L., Zinkstok, Janneke R., Müller, Annelieke R., van Amelsvoort, Thérèse A.M.J., Boot, Erik

المصدر: Movement Disorders Clinical Practice. 10(1):17-31

مصطلحات موضوعية: genetic, intellectual disability, neurodevelopmental disorder, Parkinson's disease, parkinsonism, Medicin och hälsovetenskap, Klinisk medicin, Neurologi, Medical and Health Sciences, Clinical Medicine, Neurology

الوصول الحر: https://lup.lub.lu.se/record/f154101c-e02a-4fbf-8eb7-b11918d08258Test
http://dx.doi.org/10.1002/mdc3.13577Test

المؤلفون: Müller, Annelieke R, van Silfhout, Nadia Y, den Hollander, Bibiche, Kampman, Dick H C, Bakkum, Lianne, Brands, Marion M M G, Haverman, Lotte, Terwee, Caroline B, Schuengel, Carlo, Daams, Joost, Hessl, David, Wijburg, Frits A, Boot, Erik, van Eeghen, Agnies M

المصدر: Müller , A R , van Silfhout , N Y , den Hollander , B , Kampman , D H C , Bakkum , L , Brands , M M M G , Haverman , L , Terwee , C B , Schuengel , C , Daams , J , Hessl , D , Wijburg , F A , Boot , E & van Eeghen , A M 2024 , ' Navigating the outcome maze : a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability ' , Therapeutic advances in rare ....

العلاقة: https://research.vu.nl/en/publications/ac71db5a-b503-4ec0-9369-bc112c7edd21Test

الإتاحة: https://doi.org/10.1177/26330040241245721Test
https://research.vu.nl/en/publications/ac71db5a-b503-4ec0-9369-bc112c7edd21Test
https://hdl.handle.net/1871.1/ac71db5a-b503-4ec0-9369-bc112c7edd21Test

المؤلفون: Vos, Niels, Kleinendorst, Lotte, van der Laan, Liselot, van Uhm, Jorrit, Jansen, Philip R, van Eeghen, Agnies M, Maas, Saskia M, Mannens, Marcel M A M, van Haelst, Mieke M

المصدر: Vos , N , Kleinendorst , L , van der Laan , L , van Uhm , J , Jansen , P R , van Eeghen , A M , Maas , S M , Mannens , M M A M & van Haelst , M M 2024 , ' Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes : from clinical manifestations towards personalized treatment options ' , European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-024-01601-2Test

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/eccb0ed3-a677-46c5-bcf3-138531b1be4cTest

الإتاحة: https://doi.org/10.1038/s41431-024-01601-2Test
https://pure.eur.nl/en/publications/eccb0ed3-a677-46c5-bcf3-138531b1be4cTest
https://pure.eur.nl/ws/files/152846090/s41431-024-01601-2.pdfTest
http://www.scopus.com/inward/record.url?scp=85190155321&partnerID=8YFLogxKTest

المؤلفون: Kwetsie, Hadassa, van Schaijk, Malu, Van Der Lee, Sven, Maes-Festen, Dederieke, Ten Hoopen, Leontine W., van Haelst, Mieke M., Coesmans, Michael, Van Den Berg, Esther, De Wit, Marie Claire Y., Pijnenburg, Yolande, Aronica, Eleonora, Boot, Erik, Van Eeghen, Agnies M.

المصدر: Kwetsie , H , van Schaijk , M , Van Der Lee , S , Maes-Festen , D , Ten Hoopen , L W , van Haelst , M M , Coesmans , M , Van Den Berg , E , De Wit , M C Y , Pijnenburg , Y , Aronica , E , Boot , E & Van Eeghen , A M 2024 , ' Dementia in Rare Genetic Neurodevelopmental Disorders : A Systematic Literature Review ' , Neurology , vol. 102 , no. 11 , e209413 . https://doi.org/10.1212/wnl.0000000000209413Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/ea355aed-4ac7-45f0-a742-c95e58ce7998Test

الإتاحة: https://doi.org/10.1212/wnl.0000000000209413Test
https://pure.eur.nl/en/publications/ea355aed-4ac7-45f0-a742-c95e58ce7998Test
https://pure.eur.nl/ws/files/149728916/WNL.0000000000209413.pdfTest
http://www.scopus.com/inward/record.url?scp=85193607471&partnerID=8YFLogxKTest

المؤلفون: Hollander, Bibiche den, Rothuizen-Lindenschot, Marieke, Geertjens, Lisa, Vaz, Frédéric M, Brands, Marion M, Le, Hoang Lan, van Eeghen, Agnies M, van de Ven, Peter M, Cornel, Martina C, Jacobs, Bart A W, Bruining, Hilgo, van Karnebeek, Clara D

المصدر: Hollander , B D , Rothuizen-Lindenschot , M , Geertjens , L , Vaz , F M , Brands , M M , Le , H L , van Eeghen , A M , van de Ven , P M , Cornel , M C , Jacobs , B A W , Bruining , H & van Karnebeek , C D 2024 , ' Corrigendum to "Effectiveness of L-serine supplementation in children with a GRIN2B loss-of-function mutation : Rationale and protocol for single patient (n-of-1) multiple cross-over trials” [Contemp. Clin. Trials Commun. 36 (2023)/ DOI:10.1016/j.conctc.2023.101233] (Contemporary Clinical Trials Communications ....

العلاقة: https://research.vumc.nl/en/publications/717ac158-f81d-48df-ac94-006c14049422Test

الإتاحة: https://doi.org/10.1016/j.conctc.2024.101264Test
https://doi.org/10.1016/j.conctc.2023.101233Test
https://research.vumc.nl/en/publications/717ac158-f81d-48df-ac94-006c14049422Test
http://www.scopus.com/inward/record.url?scp=85184756377&partnerID=8YFLogxKTest

المؤلفون: Klein Haneveld, Mirthe J, Hieltjes, Iméze J, Langendam, Miranda W, Cornel, Martina C, Gaasterland, Charlotte M W, Van Eeghen, Agnies M

المصدر: Klein Haneveld , M J , Hieltjes , I J , Langendam , M W , Cornel , M C , Gaasterland , C M W & Van Eeghen , A M 2024 , ' Improving care for rare genetic neurodevelopmental disorders : a systematic review and critical appraisal of clinical practice guidelines using AGREE II ' , Genetics in Medicine , vol. 26 , no. 4 , 101071 , pp. 101071 . https://doi.org/10.1016/j.gim.2024.101071Test

العلاقة: https://research.vumc.nl/en/publications/c2c0f6b0-02e2-432b-8b3c-c52ad59655d1Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101071Test
https://research.vumc.nl/en/publications/c2c0f6b0-02e2-432b-8b3c-c52ad59655d1Test
http://www.scopus.com/inward/record.url?scp=85185903689&partnerID=8YFLogxKTest

المؤلفون: von Scheibler, Emma N.M.M., Widdershoven, Josine C.C., van Barneveld, Denise C.P.B.M., Schröder, Nina, van Eeghen, Agnies M., van Amelsvoort, Thérèse A.M.J., Boot, Erik

المصدر: von Scheibler , E N M M , Widdershoven , J C C , van Barneveld , D C P B M , Schröder , N , van Eeghen , A M , van Amelsvoort , T A M J & Boot , E 2024 , ' Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2 ' , American Journal of Medical Genetics Part A , vol. 194 , no. 3 . https://doi.org/10.1002/ajmg.a.63456Test

مصطلحات موضوعية: audiometry, hearing loss, microdeletion 22q11.2, otolaryngology

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/2c2740e6-0f2a-4a98-9812-b8c66092576fTest

الإتاحة: https://doi.org/10.1002/ajmg.a.63456Test
https://cris.maastrichtuniversity.nl/en/publications/2c2740e6-0f2a-4a98-9812-b8c66092576fTest

المؤلفون: Schuitema, Anna, Anjie, Suzanne I., van Eeghen, Agnies M., Tas, Sander W., Löwenberg, Mark

المصدر: Clinical Case Reports ; volume 12, issue 1 ; ISSN 2050-0904 2050-0904

الإتاحة: https://doi.org/10.1002/ccr3.8227Test

المؤلفون: Schuitema, Anna, Anjie, Suzanne I., van Eeghen, Agnies M., Tas, Sander W., Löwenberg, Mark

المصدر: Kompass Autoimmun ; volume 6, issue 2, page 97-99 ; ISSN 2624-8468 2624-8476

الإتاحة: https://doi.org/10.1159/000538605Test
https://karger.com/kai/article-pdf/6/2/97/4225218/000538605.pdfTest

المؤلفون: de Vries, Petrus J., Heunis, Tosca-Marie, Vanclooster, Stephanie, Chambers, Nola, Bissell, Stacey, Byars, Anna W., Flinn, Jennifer, Gipson, Tanjala T., van Eeghen, Agnies M., Waltereit, Robert, Jansen, Anna C.

المساهمون: de Vries, Petrus J., Heunis, Tosca-Marie, Vanclooster, Stephanie, Chambers, Nola, Bissell, Stacey, Byars, Anna W., Flinn, Jennifer, Gipson, Tanjala T., van Eeghen, Agnies M., Waltereit, Robert, Jansen, Anna C.

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/133080Test; 9500

الإتاحة: https://doi.org/10.1186/s11689-023-09500-1Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/133080Test