-
1Academic Journal
المؤلفون: Lessel, D., Schob, C., Küry, S., Reinders, M.R.F., Harel, T., Eldomery, M.K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A.P.A., Gerkes, E.H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T.M., Rosenfeld, J.A., Yang, Y., Posey, J.E., Immken, L., Oundjian, N., Helbig, K.L., Meeks, N., Zegar, K., Morton, J., Schieving, J.H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H.G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J.R., Kreienkamp, H.J.
المصدر: Am. J. Hum. Genet. 101, 716-724 (2017)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/29100085; info:eu-repo/semantics/altIdentifier/wos/WOS:000414251600005; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52265; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
-
2Academic Journal
المؤلفون: Cheng, H., Dharmadhikari, A.V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A.F., Yoon, M., Stray-Pedersen, A., Posey, J.E., Crews, S.R., Eldomery, M.K., Akdemir, Z.C., Lewis, A.M., Sutton, V.R., Rosenfeld, J.A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., Longoni, M., High, F.A., Slegtenhorst, M.A. van, Mancini, G.M.S., Finnila, C.R., Haeringen, A. van, Hollander, N. den, Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E.E., Murray, L., Lim, D., Jayakar, P., Parker, M.J., Giusto, S., Stracuzzi, E., Romano, C, Beighley, J.S., Bernier, R.A., Kury, S., Nizon, M., Corbett, M.A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K.S., Dijck, A. Van, Vandeweyer, G., Kleefstra, T., Schieving, J.H., Jongmans, M.C., Vries, B.B.A. de, Pfundt, R.P., Kerr, B., Rojas, S.K., Boycott, K.M., Person, R., Willaert, R., Eichler, E.E., Kooy, R.F., Yang, Y., Wu, J.C., Lupski, J.R., Arnesen, T., Cooper, G.M., Chung, W.K., Gecz, J., Stessman, H.A.F., Meng, L., Lyon, G.J.
المصدر: American Journal of Human Genetics, 102, 5, pp. 985-994
مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Relation: http://hdl.handle.net/2066/193310
-
3Academic Journal
المؤلفون: Eldomery, M.K., Akdemir, Z.C., Vogtle, F.N., Charng, W.L., Mulica, P., Rosenfeld, J.A., Gambin, T., Gu, S., Burrage, L.C., Shamsi, A. Al, Penney, S., Jhangiani, S.N., Zimmerman, H.H., Muzny, D.M., Wang, X., Tang, J., Medikonda, R., Ramachandran, P.V., Wong, L.J., Boerwinkle, E., Gibbs, R.A., Eng, C.M., Lalani, S.R., Hertecant, J., Rodenburg, R.J.T., Abdul-Rahman, O.A., Yang, Y, Xia, F., Wang, M.C., Lupski, J.R., Meisinger, C., Sutton, V.R.
المصدر: Genome Medicine, 8, 1, pp. 106
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/170911/170911.pdf; http://hdl.handle.net/2066/170911; https://doi.org/10.1186/s13073-016-0360-6
-
4Academic Journal
المؤلفون: Lodder, E.M., De Nittis, P., Koopman, C.D., Wiszniewski, W., Moura de Souza, C.F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E.A., Boualla, L., Blom, N.A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z.H., Fish, R.J., Eldomery, M.K., Ratbi, I., Wilde, A.A., de Boer, T., Simonds, W.F., Neerman-Arbez, M., Sutton, V.R., Kok, F., Lupski, J.R., Reymond, A., Bezzina, C.R., Bakkers, J., Merla, G.
المصدر: American journal of human genetics, vol. 99, no. 3, pp. 704-710
مصطلحات موضوعية: Adolescent, Animals, Bradycardia/genetics, Bradycardia/physiopathology, Child, Developmental Disabilities/genetics, Developmental Disabilities/physiopathology, Female, GTP-Binding Protein beta Subunits/deficiency, GTP-Binding Protein beta Subunits/genetics, Gastroesophageal Reflux/genetics, Gastroesophageal Reflux/physiopathology, Gene Deletion, Genes, Recessive/genetics, Heart Rate/genetics, Heterozygote, Humans, Male, Muscle Hypotonia/genetics, Mutation/genetics, Mutation, Missense/genetics, Pedigree, Phenotype, Retinal Diseases/genetics, Retinal Diseases/physiopathology, Seizures/genetics, Sinoatrial Node/physiopathology, Syndrome
Relation: info:eu-repo/semantics/altIdentifier/pmid/27523599; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_764CB1E0F6D0
-
5Academic Journal
المؤلفون: Burrage, L.C., Charng, W.L., Eldomery, M.K., Willer, J.R., Davis, E.E., Lugtenberg, D., Zhu, W., Leduc, M.S., Akdemir, Z.C., Azamian, M., Zapata, G., Hernandez, P.P., Schoots, J., Munnik, S.A. de, Roepman, R., Pearring, J.N., Jhangiani, S., Katsanis, N., Vissers, L.E.L.M., Brunner, H.G., Beaudet, A.L., Rosenfeld, J.A., Muzny, D.M., Gibbs, R.A., Eng, C.M., Xia, F., Lalani, S.R., Lupski, J.R., Bongers, E.M.H.F., Yang, Y
المصدر: American Journal of Human Genetics, 97, 6, pp. 904-13
مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/152097/152097.pdf; http://hdl.handle.net/2066/152097
Full Text Finder