المؤلفون: Rosier, J.C., van Woerden, J.A., van der Kolk, L.W., Driessen, B.J.F., Kwee, H.H., Duimel, J.J., Smits, J.J., Tuinhof de Moed, A.A., Honderd, G., Bruyn, P.M.

المصدر: Fifth International Conference on Advanced Robotics 'Robots in Unstructured Environments Advanced Robotics, 1991. 'Robots in Unstructured Environments', 91 ICAR., Fifth International Conference on. :893-898 vol.1 1991

Relation: Fifth International Conference on Advanced Robotics 'Robots in Unstructured Environments

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, 963-978

مصطلحات 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

المؤلفون: Smits, J.J.

المساهمون: Kremer, J.M.J., Pennings, R.J.E., Lanting, C.P., Radboud University Nijmegen

مصطلحات موضوعية: Sensory disorders [Radboudumc 12], Donders Center for Medical Neuroscience, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eb805e40a758289f772c123cf7e98998
https://repository.ubn.ru.nl/handle/2066/246938

المؤلفون: Smits, J.J., Bruijn, S.E. de, Lanting, C.P., Oostrik, J., O'Gorman, L., Mantere, T., Cremers, F.P.M., Roosing, S., Yntema, H.G., Vrieze, E. de, Derks, R., Hoischen, A., Pegge, S.A.H., Neveling, K., Pennings, R.J.E., Kremer, H., DOOFNL Consortium

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::668ec7c10f51512c97873a0d3ac2387a
https://hdl.handle.net/1887/3593859

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المؤلفون: Smits, J.J., Oostrik, J., Beynon, A.J., Kant, S.G., Gans, P.A.M.D., Rotteveel, L.J.C., Wassink-Ruiter, J.S.K., Free, R.H., Maas, S.M., Kamp, J. van de, Merkus, P., Koole, W., Feenstra, I., Admiraal, R.J.C., Lanting, C.P., Schraders, M., Yntema, H.G., Pennings, R.J.E., Kremer, H., DOOFNL Consortium

المساهمون: Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, Otolaryngology / Head & Neck Surgery, APH - Quality of Care, APH - Societal Participation & Health, Perceptual and Cognitive Neuroscience (PCN), Human Genetics

المصدر: Human Genetics, 138(1), 61-72
Human Genetics, 138(1), 61-72. Springer Verlag
Human Genetics, 138, 61-72
Smits, J J, Oostrik, J, Beynon, A J, Kant, S G, de Koning Gans, P A M, Rotteveel, L J C, Klein Wassink-Ruiter, J S, Free, R H, Maas, S M, van de Kamp, J, Merkus, P, Koole, W, Feenstra, I, Admiraal, R J C, Lanting, C P, Schraders, M, Yntema, H G, Pennings, R J E, Kremer, H & DOOFNL Consortium 2019, ' De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment ', Human Genetics, vol. 138, no. 1, pp. 61-72 . https://doi.org/10.1007/s00439-018-1965-1
HUMAN GENETICS, 138(1), 61-72. SPRINGER
Human genetics, 138(1), 61-72. Springer Verlag
Human Genetics
Human Genetics, 138, 1, pp. 61-72

مصطلحات موضوعية: Male, Stereocilia (inner ear), MOUSE, PHENOTYPE, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], CDH23, ISOFORM-2, Missense mutation, Child, Progressive hearing impairment, Genetics (clinical), Exome sequencing, Original Investigation, 0303 health sciences, 030305 genetics & heredity, Middle Aged, Prognosis, Digenic inheritance, Pedigree, 3. Good health, Child, Preschool, Female, DEAFNESS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Heterozygote, Adolescent, PUMP, MYO6, INTERACTS, Biology, Plasma Membrane Calcium-Transporting ATPases, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Genetics, otorhinolaryngologic diseases, Humans, Genetic Predisposition to Disease, Hearing Loss, Aged, 030304 developmental biology, GENE, POINT MUTATION, Ion homeostasis, ATP2B2, Mutation, Immunology, PMCA2, Biomarkers, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fa2a9e19ff4836d8f13fe533df77d22
https://doi.org/10.1007/s00439-018-1965-1

المؤلفون: Bruijn, S.E. de, Smits, J.J., Liu, C., Lanting, C.P., Beynon, A.J., Blankevoort, J., Oostrik, J., Koole, W., Vrieze, E. de, Cremers, C.W.R.J., Cremers, F.P.M., Roosing, S., Yntema, H.G., Kunst, H.P.M., Zhao, B., Pennings, R.J.E., Kremer, H., DOOFNL Consortium

المساهمون: APH - Aging & Later Life, APH - Health Behaviors & Chronic Diseases, Ear, Nose and Throat

المصدر: Journal of Medical Genetics, 58, 96-104
Journal of medical genetics, 58(2), 96-104. BMJ Publishing Group
Journal of Medical Genetics, 58, 2, pp. 96-104
Journal of Medical Genetics, 58(2), 96-104. BMJ PUBLISHING GROUP

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Failure to rescue, Hearing loss, Stereocilia (inner ear), human genetics, Audiology, Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Molecular genetics, medicine, otorhinolaryngologic diseases, genetics, Genetics (clinical), Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, business.industry, Wild type, Autosomal dominant trait, Progressive hearing loss, Phenotype, Human genetics, 030104 developmental biology, chemistry, molecular genetics, medicine.symptom, Age of onset, business, Penetrant (biochemical), 030217 neurology & neurosurgery, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a91b2ac3395f7cb7a16db7ed81b05c
http://hdl.handle.net/2066/230620

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