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المؤلفون: Correia-Costa, G.R., Leeuw, N. de, Pfundt, R.P., Sgardioli, I.C., Santos, A.P. Dos, Santos, M., Gil-da-Silva-Lopes, V.L., Vieira, T.P.
المصدر: Clinical Genetics, 102, 6, pp. 537-542
Clinical Genetics, 102, 537-542مصطلحات موضوعية: Male, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Seizures, Gingival Overgrowth, Siblings, Genetics, Humans, Cognitive Dysfunction, Frameshift Mutation, Genetics (clinical), Pedigree
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المؤلفون: Rots, D., Jakub, T.E., Keung, C., Jackson, A., Banka, S., Pfundt, R.P., Vries, B.B.A. de, Jaarsveld, R.H. van, Hopman, S.M.J., Binsbergen, E. van, Valenzuela, I., Hempel, M., Bierhals, T., Kortüm, F., Lecoquierre, F., Goldenberg, A., Hertz, J.M., Andersen, C.B., Kibæk, M., Prijoles, E.J., Stevenson, R.E., Everman, D.B., Patterson, W.G., Meng, L., Gijavanekar, C., Dios, K. De, Lakhani, S., Levy, T., Wagner, M., Wieczorek, D., Benke, P.J., Lopez Garcia, M.S., Perrier, R., Sousa, S.B., Almeida, P.M., Simões, M.J., Isidor, B., Deb, W., Schmanski, A.A., Abdul-Rahman, O., Philippe, C., Bruel, A.L., Faivre, L., Vitobello, A., Thauvin, C., Smits, J.J., Garavelli, L., Caraffi, S.G., Peluso, F., Davis-Keppen, L., Platt, D., Royer, E., Leeuwen, L van, Sinnema, M., Stegmann, A.P.A., Stumpel, C.T., Tiller, G.E., Bosch, D.G.M., Potgieter, S.T., Joss, S., Splitt, M., Holden, S., Prapa, M., Foulds, N., Douzgou, S., Puura, K., Waltes, R., Chiocchetti, A.G., Freitag, C.M., Satterstrom, F.K., Rubeis, S. de, Buxbaum, J., Gelb, B.D., Branko, A., Kushima, I., Howe, J., Scherer, S.W., Arado, A., Baldo, C., Patat, O., Bénédicte, D., Lopergolo, D., Santorelli, F.M., Haack, T.B., Dufke, A., Bertrand, M., Falb, R.J., Rieß, A., Krieg, P., Spranger, S., Bedeschi, M.F., Iascone, M., Josephi-Taylor, S., Roscioli, T., Buckley, M.F., Liebelt, J., Dagli, A.I., Aten, E., Hurst, A.C.E., Hicks, A., Suri, M., Aliu, E., Naik, S., Sidlow, R., Coursimault, J., Nicolas, G., Küpper, H., Petit, F., Ibrahim, V., Top, D., Cara, F. Di, Louie, R.J., Stolerman, E., Brunner, H.G., Vissers, L.E.L.M., Kramer, J.M., Kleefstra, T.
المساهمون: Clinical Genetics
المصدر: American Journal of Human Genetics, 110(6), 963-978. Cell Press
American Journal of Human Genetics, 110, 6, pp. 963-978
American Journal of Human Genetics, 110, 963-978مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SDG 3 - Good Health and Well-being, Genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8143c733f6eac531e487435c91e46cb2
https://doi.org/10.1016/j.ajhg.2023.04.008 -
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المؤلفون: Yaldiz, B., Kucuk, E., Hampstead, J.E., Hofste, Tom, Pfundt, R.P., Corominas-Galbany, J., Rinne, T.K., Yntema, H.G., Hoischen, A., Nelen, M.R., Gilissen, C.F.H.A.
المصدر: Human Genomics, 17, 1
Human Genomics, 17مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Other Research Radboud Institute for Health Sciences [Radboudumc 0], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
وصف الملف: application/pdf
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المؤلفون: Bessenyei, B., Balogh, I., Mokánszki, A., Ujfalusi, A., Pfundt, R.P., Szakszon, K.
المصدر: Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies, 8
Cold Spring Harbor Molecular Case Studies, 8, 1مصطلحات موضوعية: Research Report, intellectual disability, moderate, secundum atrial septal defect, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], abnormality of the maxilla, delayed gross motor development
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5dfc98a7ebd4a6eee55a6e9d40436fb9
http://europepmc.org/articles/PMC8744498 -
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المؤلفون: Dingemans, A.J.M., Hinne, M., Jansen, S, Reeuwijk, J. van, Leeuw, N. de, Pfundt, R.P., Bon, B.W.M. van, Vulto-van Silfhout, A.T., Kleefstra, T., Koolen, D.A., Gerven, M.A.J. van, Vissers, L.E.L.M., Vries, L.B.A. de
المصدر: European Journal of Human Genetics, 30, 506
European Journal of Human Genetics, 30, 1, pp. 506مصطلحات موضوعية: Cognitive artificial intelligence
وصف الملف: application/pdf
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المؤلفون: Schonewolf-Greulich, B., Tejada, M.I., Stephens, K., Hadzsiev, K., Gauthier, J., Brondum-Nielsen, K., Pfundt, R.P., Ravn, K., Maortua, H., Gener, B., Martinez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.M., Tumer, Z.
المصدر: Clinical Genetics, 89, 733-8
Clinical Genetics, 89, 6, pp. 733-8مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]
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المؤلفون: Reijnders, M.R.F., Miller, K.A., Alvi, M., Goos, J.A.C., Lees, M.M., Burca, A. de, Henderson, A., Kraus, A., Mikat, B., Vries, B.B.A. de, Isidor, B., Kerr, B., Marcelis, C.L.M., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C.A.L., Wieczorek, D., Baralle, D., Blair, E.M., Engels, H., Ludecke, H.J., Eason, J., Santen, G.W.E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K., Radtke, K., Nugent, K.M., Cremer, K., Strom, T.M., Bird, L.M., Sinnema, M., Bitner-Glindzicz, M., Dooren, M.F. van, Alders, M., Koopmans, M., Brick, L., Kozenko, M., Harline, M.L., Klaassens, M., Steinraths, M., Cooper, N.S., Edery, P., Yap, P., Terhal, P.A., Spek, P.J. van der, Lakeman, P., Taylor, R.L., Littlejohn, R.O., Pfundt, R.P., Mercimek-Andrews, S., Stegmann, A.P.A., Kant, S.G., McLean, S., Joss, S., Swagemakers, S.M.A., Douzgou, S., Wall, S.A., Kury, S., Calpena, E., Koelling, N., McGowan, S.J., Twigg, S.R.F., Mathijssen, I.M.J., Nellaker, C., Brunner, H.G., Wilkie, A.O.M.
المساهمون: Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics, Pathology
المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 102, 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
American Journal of Human Genetics, 102(6), 1195-1203. Cell Press
American Journal of Human Genetics, 102, 6, pp. 1195-1203مصطلحات موضوعية: Tousled-like, Facial Averaging, Haploinsufficiency, Intellectual Disability, Kinase, Adult, Male, Adolescent, kinase, viruses, Inheritance Patterns, Medizin, Translocation, Genetic, Cell Line, Young Adult, Loss of Function Mutation, Report, Humans, RNA, Messenger, Child, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Base Sequence, Facies, Infant, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, Child, Preschool, Female, Protein Kinases, facial averaging, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf; text
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المؤلفون: Willems, A.P., Gundogdu, M., Kempers, M.J.E., Giltay, J.C., Pfundt, R.P., Elferink, M., Loza, B.F., Fuijkschot, J., Ferenbach, A.T., Gassen, K.L. van, Aalten, D.M.F. van, Lefeber, D.J.
المصدر: Journal of Biological Chemistry, 292, 12621-12631
Journal of Biological Chemistry, 292, 30, pp. 12621-12631مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Other Research Radboud Institute for Health Sciences [Radboudumc 0], Disorders of movement Radboud Institute for Molecular Life Sciences [Radboudumc 3], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e33b1a863f16e96b02806648fb2762c3
http://hdl.handle.net/2066/177227 -
9Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
المؤلفون: Goos, J.A.C., Swagemakers, S.M.A., Twigg, S.R.F., Dooren, M.F. van, Hoogeboom, A.J.M., Beetz, C., Gunther, S., Magielsen, F.J., Ockeloen, C.W., Ramos-Arroyo, M.A., Pfundt, R.P., Yntema, H.G., Spek, P.J. van der, Stanier, P., Wieczorek, D., Wilkie, A.O.M., Ouweland, A.M.W. van den, Mathijssen, I.M.J., Hurst, J.A.
المصدر: European Journal of Human Genetics, 25, 10, pp. 1126-1133
European Journal of Human Genetics, 25, 1126-1133مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], otorhinolaryngologic diseases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: application/pdf
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المؤلفون: Kleefstra, T., Pfundt, R.P., Brunner, H.G., Egger, J.I.M.
المصدر: Journal of the International Neuropsychological Society, 22, 28
Journal of the International Neuropsychological Society, 22, 2, pp. 28مصطلحات موضوعية: Experimental Psychopathology and Treatment, Neuro- en revalidatiepsychologie, Neuropsychology and rehabilitation psychology, Plasticity and Memory [DI-BCB_DCC_Theme 3]
وصف الملف: application/pdf