المؤلفون: Vaz, F.M., McDermott, J.H., Alders, M., Wortmann, S.B., Kölker, S., Pras-Raves, M.L., Vervaart, M.A.T., van Lenthe, H., Luyf, A.C.M., Elfrink, H.L., Metcalfe, K., Cuvertino, S., Clayton, P.E., Yarwood, R., Lovell, S., Rogers, R.C., van Kampen, A.H.C., Ruiter, J.P.N., Wanders, R.J.A., Ferdinandusse, S., van Weeghel, M., Engelen, M., Banka, S.

المصدر: Brain 142, 3382-3397 (2019)

مصطلحات موضوعية: Hereditary Spastic Paraplegia, Pcyt2, Ctp:phosphoethanolamine Cytidylyltransferase, Phospholipid Biosynthesis, Lipidomics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31637422; info:eu-repo/semantics/altIdentifier/wos/WOS:000504323200020; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57168Test; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awz291Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57168Test

المؤلفون: Reijnders, M.R.F., Miller, K.A., Alvi, M., Goos, J.A.C., Lees, M.M., de Burca, A., Henderson, A.J., Kraus, A., Mikat, B., de Vries, B.B.A., Isidor, B., Kerr, B., Marcelis, C.L., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C.A.L., Wieczorek, D., Baralle, D., Blair, E.M., Engels, H., Lüdecke, H.J., Eason, J., Santen, G.W.E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K.L., Radtke, K., Nugent, K.M., Cremer, K., Strom, T.M., Bird, L.M., Sinnema, M., Bitner-Glindzicz, M., van Dooren, M.F., 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., van der Spek, P.J., Lakeman, P., Taylor, R.L., Littlejohn, R.O., Pfundt, R., Mercimek-Andrews, S., Stegmann, A.P.A., Kant, S.G., McLean, S.B., Joss, S., Swagemakers, S.M.A., Douzgou, S., Wall, S.A., Küry, 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.

المصدر: Am. J. Hum. Genet. 102, 1195-1203 (2018)

مصطلحات موضوعية: Tousled-like, Facial Averaging, Haploinsufficiency, Intellectual Disability, Kinase

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29861108; info:eu-repo/semantics/altIdentifier/wos/WOS:000434946200015; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53604Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.014Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=53604Test

المؤلفون: Oud, M.M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M.H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C.M., Wanders, R.J.A., Pals, S.T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T.M., Engels, H., Williams, H.J., Beales, P., Roepman, R., Dias, P., Brunner, H.G., Cobben, J.M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E.G., de Sousa, S.B., Lessel, D., Arts, H.H., Kuijpers, T.W.

المصدر: Am. J. Hum. Genet. 100, 281-296 (2017)

مصطلحات موضوعية: Exostosin, Extl3, Heparan Sulfate, Neuro-immuno-skeletal Dysplasia, T Cell Scid

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28132690; info:eu-repo/semantics/altIdentifier/wos/WOS:000393352000009; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50445Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.01.013Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=50445Test

المؤلفون: Wilde, A.A., Moss, A.J., Kaufman, E.S., Shimizu, W., Peterson, D.R., Benhorin, J., Lopes, C., Towbin, J.A., Spazzolini, C., Crotti, L., Zareba, W., Goldenberg, I., Kanters, J.K., Robinson, J.L., Qi, M., Hofman, N., Tester, D.J., Bezzina, C.R., Alders, M., Aiba, T., Kamakura, S., Miyamoto, Y., Andrews, M.L., McNitt, S., Polonsky, B., Schwartz, P.J., Ackerman, M.J.

المصدر: Circulation 134, 872-882 (2016)

مصطلحات موضوعية: Scn5a, Genetic Testing, Long Qt Syndrome, Risk Stratification, Sudden Cardiac Death, Arrhythmia

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27566755; info:eu-repo/semantics/altIdentifier/wos/undefined; info:eu-repo/semantics/altIdentifier/isbn/0009-7322; info:eu-repo/semantics/al; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49332Test; urn:isbn:0009-7322; urn:issn:0009-7322; urn:issn:1524-4539

الإتاحة: https://doi.org/10.1161/CIRCULATIONAHA.116.021823Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=49332Test

المؤلفون: Boczek, N.J., Ye, D., Johnson, E.K., Wang, W., Crotti, L., Tester, D.J., Dagradi, F., Mizusawa, Y., Torchio, M., Alders, M., Giudicessi, J.R., Wilde, A.A.M., Schwartz, P.J., Nerbonne, J.M., Ackerman, M.J.

المصدر: Circ. Res. 115, 460-469 (2014)

مصطلحات موضوعية: Brugada Syndrome, Genetics, Ion Channels, Medical, Potassium Channels, Semaphorin-3a

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000340364700011; info:eu-repo/semantics/altIdentifier/isbn/0009-7330; info:eu-repo/semantics/altIdentifier/pissn/0009-7330; info:eu-repo/sema; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=31909Test; urn:isbn:0009-7330; urn:issn:0009-7330; urn:issn:1524-4571

الإتاحة: https://doi.org/10.1161/CIRCRESAHA.115.303657Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=31909Test