المؤلفون: Admiraal, M. M., Velseboer, D. C., Tjabbes, H., Vis, P., Peeters-Scholte, C., Horn, J.

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.3389/fneur.2023.1136046Test

المؤلفون: Vos, E. M., Geraedts, V. J., van der Lugt, A., Dippel, D. W. J., Wermer, M. J. H., Hofmeijer, J., van Es, A. C. G. M., Roos, Y. B. W. E. M., Peeters-Scholte, C. M. P. C. D., van den Wijngaard, I. R.

المصدر: Vos , E M , Geraedts , V J , van der Lugt , A , Dippel , D W J , Wermer , M J H , Hofmeijer , J , van Es , A C G M , Roos , Y B W E M , Peeters-Scholte , C M P C D & van den Wijngaard , I R 2022 , ' Systematic Review - Combining Neuroprotection With Reperfusion in Acute Ischemic Stroke ' , Frontiers in Neurology , vol. 13 , 840892 . https://doi.org/10.3389/fneur.2022.840892Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/0aa41aae-4ba2-4bec-979a-caf71833b7ceTest

الإتاحة: https://doi.org/10.3389/fneur.2022.840892Test
https://pure.eur.nl/en/publications/0aa41aae-4ba2-4bec-979a-caf71833b7ceTest
https://pure.eur.nl/ws/files/90549025/fneur_13_840892.pdfTest
http://www.scopus.com/inward/record.url?scp=85127800642&partnerID=8YFLogxKTest

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: Pijpers, J.A., Au, P.Y.B., Weeke, L.C., Vein, A.A., Smit, L.S., Vilan, A., Jacobs, E., Vries, L.S. de, Steggerda, S.J., Cilio, M.R., Carapancea, E., Cornet, M.C., Appendino, J.P., Peeters-Scholte, C.

المصدر: Seizure-European Journal of Epilepsy, 110, pp. 212-219

مصطلحات موضوعية: Radboudumc 0: Other Research Paediatrics

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/301321/301321.pdfTest; https://repository.ubn.ru.nl/handle/2066/301321Test

الإتاحة: https://doi.org/10.1016/j.seizure.2023.06.016Test
https://repository.ubn.ru.nl//bitstream/handle/2066/301321/301321.pdfTest
https://repository.ubn.ru.nl/handle/2066/301321Test

المؤلفون: Peeters-Scholte, C., Meilin, S., Berckovich, Y., Westers, P.

المصدر: PLoS ONE

وصف الملف: application/pdf

العلاقة: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0291915Test; lumc-id: 185685284; https://hdl.handle.net/1887/3715392Test

الإتاحة: https://doi.org/10.1371/journal.pone.0291915Test
https://hdl.handle.net/1887/3715392Test
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0291915Test

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: Mol, Louk, Wong, Yu Yi, van Pelt - T Gravesteijn, Elles, Ketelslegers, IA, Bakker, DP, Boon, M, Braun, KPJ, van Dijk, KGJ, Eikelenboom, MJ, Engelen, MP, Geleijns, K, Haaxma, C A, Niermeijer, JMF, Niks, EH, Peeters, EAJ, Peeters-Scholte, C, Poll-The, BT, Portier, RP, De Rijk-Van Andel, JF, Samijn, JPA, Schippers, HM, Snoeck, IN, Stroink, H, Vermeulen, RJ, Verrips, A, Visscher, F, Vles, JSH, Willemsen, M, Catsman - Berrevoets, Coriene, Hintzen, Rogier, Neuteboom, Rinze

المصدر: Mol , L , Wong , Y Y , van Pelt - T Gravesteijn , E , Ketelslegers , IA , Bakker , DP , Boon , M , Braun , KPJ , van Dijk , KGJ , Eikelenboom , MJ , Engelen , MP , Geleijns , K , Haaxma , C A , Niermeijer , JMF , Niks , EH , Peeters , EAJ , Peeters-Scholte , C , Poll-The , BT , Portier , RP , De Rijk-Van Andel , JF , Samijn , JPA , Schippers , HM , Snoeck , IN , Stroink , ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s00415-018-8835-6Test
https://pure.eur.nl/en/publications/61463f30-8264-46d9-a8d5-69c2752b30deTest
https://pure.eur.nl/ws/files/47918475/REPUB_105444-OA.pdfTest
http://hdl.handle.net/1765/105444Test

المؤلفون: de Lange, I. M., Rump, P., Neuteboom, R. F., Augustijn, P. B., Hodges, K., Kistemaker, A. I., Brouwer, O. F., Mancini, G. M. S., Newman, H. A., Vos, Y. J., Helbig, K. L., Peeters-Scholte, C., Kriek, M., Knoers, N. V., Lindhout, D., Koeleman, B. P. C., van Kempen, M. J. A., Brilstra, E. H.

المصدر: de Lange , I M , Rump , P , Neuteboom , R F , Augustijn , P B , Hodges , K , Kistemaker , A I , Brouwer , O F , Mancini , G M S , Newman , H A , Vos , Y J , Helbig , K L , Peeters-Scholte , C , Kriek , M , Knoers , N V , Lindhout , D , Koeleman , B P C , van Kempen , M J A & Brilstra , E H 2017 , ' Male patients affected by mosaic PCDH19 mutations ....

مصطلحات موضوعية: PCDH19, Mosaicism, Epilepsy, Intellectual disability, PROTOCADHERIN 19 MUTATIONS, FEMALE-LIMITED EPILEPSY, GENE-RELATED EPILEPSY, MENTAL-RETARDATION, PCDH19-RELATED EPILEPSY, DE-NOVO, ENCEPHALOPATHY, DISORDER, SPECTRUM

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/3dd56f82-3354-47f4-b279-a897bf99d84eTest

الإتاحة: https://doi.org/10.1007/s10048-017-0517-5Test
https://hdl.handle.net/11370/3dd56f82-3354-47f4-b279-a897bf99d84eTest
https://research.rug.nl/en/publications/3dd56f82-3354-47f4-b279-a897bf99d84eTest
https://pure.rug.nl/ws/files/49129323/Male_patients_affected_by_mosaic_PCDH19_mutations_five_new_cases.pdfTest

المؤلفون: Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T., CAUSES Study, Genomics England Res Consortium

المساهمون: Clinical Genetics, Chopra, Maya, Mcentagart, Meriel, Clayton-Smith, Jill, Platzer, Konrad, Shukla, Anju, Girisha, Katta M, Kaur, Anupriya, Kaur, Parneet, Pfundt, Rolph, Veenstra-Knol, Hermine, Mancini, Grazia M S, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Kortüm, Fanny, Hempel, Maja, Denecke, Jona, Lehman, Anna, Kleefstra, Tjitske, Stuurman, Kyra E, Wilke, Martina, Thompson, Michelle L, Bebin, E Martina, Bijlsma, Emilia K, Hoffer, Mariette J V, Peeters-Scholte, Cacha, Slavotinek, Anne, Weiss, William A, Yip, Tiffany, Hodoglugil, Ugur, Whittle, Amy, Dimonda, Janette, Neira, Juanita, Yang, Sandra, Kirby, Amelia, Pinz, Hailey, Lechner, Rosan, Sleutels, Frank, Helbig, Ingo, Mckeown, Sarah, Helbig, Katherine, Willaert, Rebecca, Juusola, Jane, Semotok, Jennifer, Hadonou, Medard, Short, John, Yachelevich, Naomi, Lala, Sajel, Fernández-Jaen, Alberto, Pelayo, Janvier Porta, Klöckner, Chiara, Kamphausen, Susanne B, Abou Jamra, Rami, Arelin, Maria, Innes, A Micheil, Niskakoski, Anni, Amin, Sam, Williams, Maggie, Evans, Julie, Smithson, Sarah, Smedley, Damian, de Burca, Anna, Kini, Usha, Delatycki, Martin B, Gallacher, Lyndon, Yeung, Alison, Pais, Lynn, Field, Michael, Martin, Ellenore, Charles, Perrine, Courtin, Thoma, Keren, Bori, Iascone, Maria, Cereda, Anna, Poke, Gemma, Abadie, Véronique, Chalouhi, Christel, Parthasarathy, Padmini, Halliday, Benjamin J, Robertson, Stephen P, Lyonnet, Stanisla, Amiel, Jeanne, Gordon, Christopher T

المصدر: American Journal of Human Genetics, 108, 1138-1150
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Am J Hum Genet
American Journal of Human Genetics, 108(6), 1138-1150. Cell Press
American Journal of Human Genetics, 108(6), 1138-1150. CELL PRESS

مصطلحات موضوعية: Male, speech delay, Haploinsufficiency, Craniofacial Abnormalities, 0302 clinical medicine, Neurodevelopmental disorder, Loss of Function Mutation, Intellectual disability, Missense mutation, Ankyrin, Child, Genetics (clinical), Genetics, chemistry.chemical_classification, 0303 health sciences, RNA-Binding Proteins, Syndrome, Pedigree, ANKYRIN REPEAT, Phenotype, Child, Preschool, Speech delay, Female, medicine.symptom, Signal Transduction, Adult, Heterozygote, Adolescent, MASK, ANKRD17, dysmorphism, Biology, 03 medical and health sciences, Young Adult, All institutes and research themes of the Radboud University Medical Center, SDG 3 - Good Health and Well-being, Intellectual Disability, Report, medicine, Humans, Language Development Disorders, Yorkie, Loss function, 030304 developmental biology, HIPPO PATHWAY, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Infant, medicine.disease, GENE, neurodevelopmental syndrome, chemistry, Ankyrin repeat, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aad380f9aaa6b9e305df2f86f3fae1Test
https://doi.org/10.1016/j.ajhg.2021.04.007Test

المؤلفون: Jansen, L., Steggerda, S., Rijken, M., Steenis, A. van, Vries, L. de, Peeters-Scholte, C., Vermeiren, R., Klink, J. van

المصدر: Journal of Child Health Care

مصطلحات موضوعية: Preterm birth, child psychology, behaviour, child behaviour disorders, qualitative research, questionnaire

العلاقة: lumc-id: 175600929; https://hdl.handle.net/1887/3495928Test

الإتاحة: https://doi.org/10.1177/13674935221121881Test
https://hdl.handle.net/1887/3495928Test