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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.^Aff19

المصدر: Journal of Neurology. 265(6):1310-1319

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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: neurogenetics. July 2017 18(3):147-153

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aad380f9aaa6b9e305df2f86f3fae1
https://doi.org/10.1016/j.ajhg.2021.04.007

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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, M. A. A. P., Rodrigues Pereira, R., Hintzen, R. Q.

المصدر: Journal of Neurology: Official Journal of the European Neurological Society. September 2012 259(9):1929-1935

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: Frontiers in Neurology; 3/17/2022, Vol. 13, p1-18, 19p

مصطلحات موضوعية: ISCHEMIC stroke, STROKE, REPERFUSION, ENDOVASCULAR surgery, NEUROPROTECTIVE agents, RANDOMIZED controlled trials

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