المؤلفون: Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, KA, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, LB, Klopstock, T, Rivolta, C, Leroy, BP, De Baere, E, Coppieters, F

المصدر: Human mutation. 41(5):998-1011

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142967805Test

المؤلفون: Poggio, E., Barazzuol, L., Salmaso, A., Milani, C., Deligiannopoulou, A., Cazorla Á, G., Jang, S. S., Juliá-Palacios, N., Keren, B., Kopajtich, R., Lynch, S. A., Mignot, C., Moorwood, C., Neuhofer, C., Nigro, V., Oostra, A., Prokisch, H., Saillour, V., Schuermans, N., Torella, A., Verloo, P., Yazbeck, E., Zollino, M., Jech, R., Winkelmann, J., Necpal, J., Calì, T., Brini, M., Zech, M.

مصطلحات موضوعية: Atp2b2, Ataxia, Dystonia, Neurodevelopmental disorder, Plasma membrane Ca(2+) ATPase isoform 2

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(23)00987-5; Poggio E, Barazzuol L, Salmaso A, Milani C, Deligiannopoulou A, Cazorla Á G, et al. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures. Genetics in medicine : official journal of the American College of Medical Genetics. 2023;25(12):100971.; Genetics in medicine; https://hdl.handle.net/11287/623071Test

الإتاحة: https://doi.org/10.1016/j.gim.2023.100971Test
https://hdl.handle.net/11287/623071Test

المؤلفون: Stendel, C., Neuhofer, C., Floride, E., Yuqing, S., Ganetzky, R.D., Park, J., Freisinger, P., Kornblum, C., Kleinle, S., Schöls, L., Distelmaier, F., Stettner, G.M., Büchner, B., Falk, M.J., Mayr, J.A., Synofzik, M., Abicht, A., Haack, T.B., Prokisch, H., Wortmann, S.B., Murayama, K., Fang, F., Klopstock, T.

المصدر: Neurol. Genet. 6:e393 (2020)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000530284200013; info:eu-repo/semantics/altIdentifier/isbn/2376-7839; info:eu-repo/semantics/altIdentifier/pissn/2376-7839; info:eu-repo/seman; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58673Test; urn:isbn:2376-7839; urn:issn:2376-7839

الإتاحة: https://doi.org/10.1212/NXG.0000000000000393Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58673Test

المؤلفون: Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G., Wollnik, B.

المصدر: Front. Cell Dev. Biol. 10:1025332 (2022)

مصطلحات موضوعية: Cell Biology, Technology Platforms, Bioengineered Neuronal Organoids, Cohesinopathies, Mosaic Disorders, Stag2, Supernumerary Nipples, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b32f16f2200a9a871e521858a305b0cTest
https://doi.org/10.3389/fcell.2022.1025332Test

المؤلفون: Schönecker, S., Neuhofer, C., Otto, M., Ludolph, A., Kassubek, J., Landwehrmeyer, B., Anderl-Straub, S., Semler, E., Diehl-Schmid, J., Prix, C., Vollmar, C., Fortea, J., Huppertz, H., Arzberger, T., Edbauer, D., Feddersen, B., Dieterich, M., Schroeter, M., Volk, A., Fließbach, K., Schneider, A., Kornhuber, J., Maler, M., Prudlo, J., Jahn, H., Boeckh-Behrens, T., Danek, A., Klopstock, T., Levin, J.

المساهمون: Deutsches FTLD-Konsortium

المصدر: Frontiers in Aging Neuroscience

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29599716; http://hdl.handle.net/21.11116/0000-0000-F477-7Test; http://hdl.handle.net/21.11116/0000-0001-FEB8-2Test

الإتاحة: https://doi.org/10.3389/fnagi.2018.00045Test
http://hdl.handle.net/21.11116/0000-0000-F477-7Test
http://hdl.handle.net/21.11116/0000-0001-FEB8-2Test

المؤلفون: Oudijk, L, Neuhofer, C M, Lichtenauer, U D, Papathomas, T G, Korpershoek, E, Stoop, H, Oosterhuis, J W, Smid, M, Restuccia, D F, Robledo, M, de Cubas, A A, Mannelli, M, Gimenez-Roqueplo, A P, Dinjens, W N M, Beuschlein, F, de Krijger, R R

المصدر: European Journal of Endocrinology ; volume 173, issue 1, page 43-52 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1530/eje-14-1164Test
https://eje.bioscientifica.com/view/journals/eje/173/1/43.xmlTest

المؤلفون: Giordano, I., Harmuth, F., Jacobi, H., Paap, B., Vielhaber, S., Machts, J., Schols, L., Synofzik, M., Sturm, M., Tallaksen, C., Wedding, I.M., Boesch, S., Eigentler, A., Warrenburg, B.P.C. van de, Gaalen, J. van, Kamm, C., Dudesek, A., Kang, J.S., Timmann, D., Silvestri, G., Masciullo, M., Klopstock, T., Neuhofer, C., Ganos, C., Filla, A., Bauer, P., Montcel, S. Tezenas du, Klockgether, T.

المصدر: Neurology, 89, 10, pp. 1043-1049

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

العلاقة: http://hdl.handle.net/2066/178210Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000004311Test
http://hdl.handle.net/2066/178210Test

المؤلفون: Oudijk, L., Neuhofer, C. M., Lichtenauer, U. D., Papathomas, T. G., Korpershoek, E., Stoop, H., Oosterhuis, J. W., Smid, M., Restuccia, D. F., Robledo, M., De Cubas, A. A., Mannelli, M., Gimenez-Roqueplo, A. P., Dinjens, W. N M, Beuschlein, F., De Krijger, R. R.

المساهمون: Pathologie patiënten zorg

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, General Medicine

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/349929Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/349929Test

المؤلفون: Oudijk, L, Neuhofer, C, Lichtenauer, UD, Papathomas, TG, Korpershoek, E, Stoop, H, Oosterhuis, JW, Smid, M, Restuccia, DF, Robledo, M, de Cubas, A, Mannelli, M, Gimenez-Roqueplo, AP, Dinjens, WNM, Beuschlein, F, de Krijger, RR

المصدر: Experimental and Clinical Endocrinology & Diabetes ; volume 122, issue 03 ; ISSN 0947-7349 1439-3646

الإتاحة: https://doi.org/10.1055/s-0034-1372312Test

المؤلفون: Jacobs, VR, Neuhofer, C, Schwarz-Boeger, U, Schaaf, H, Kiechle, M

المصدر: Geburtshilfe und Frauenheilkunde ; volume 63, issue 12 ; ISSN 0016-5751 1438-8804

الإتاحة: https://doi.org/10.1055/s-2003-815227Test