المؤلفون: Mammen, AL, Amato, AA, Dimachkie, MM, Chinoy, H, Hussain, Y, Lilleker, JB, Pinal-Fernandez, I, Allenbach, Y, Boroojerdi, B, Vanderkelen, M, Delicha, EM, Koendgen, H, Farzaneh-Far, R, Duda, PW, Sayegh, C, Benveniste, O, Biliciler, S, Edmundson, C, Freimer, M, Geraci, A, Machado, P, Mozaffar, T, Soltanzadeh, P, Suresh, N, van der Kooi, A, Appleby, M, Barohn, RJ, Champtiaux, N, Doughty, C, Farias, J, Farmakidis, C, Habib, AA, Karam, C, Lilleker, J, Lorusso, S, Pasnoor, M, Querin, G, Raaphorst, J, Ransley, G, Saba, S, Sheikh, K, Snedden, A, Statland, J, Vu, T

المصدر: The Lancet Rheumatology , 5 (2) e67-e76. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10167532/1/IMNM%20Phase%202%20manuscript%20and%20supplementary.pdf; https://discovery.ucl.ac.uk/id/eprint/10167532/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10167532/1/IMNM%20Phase%202%20manuscript%20and%20supplementary.pdf
https://discovery.ucl.ac.uk/id/eprint/10167532/

المؤلفون: Calame, D.G., Guo, T., Wang, C., Garrett, L., Jolly, A., Dawood, M., Kurolap, A., Henig, N.Z., Fatih, J.M., Herman, I., Du, H., Mitani, T., Becker, L., Rathkolb, B., Gerlini, R., Seisenberger, C., Marschall, S., Hunter, J.V., Gerard, A., Heidlebaugh, A., Challman, T., Spillmann, R.C., Jhangiani, S.N., Coban-Akdemir, Z., Lalani, S., Liu, L., Revah-Politi, A., Iglesias, A., Guzman, E., Baugh, E., Boddaert, N., Rondeau, S., Ormieres, C., Barcia, G., Tan, Q.K.G., Thiffault, I., Pastinen, T., Sheikh, K., Biliciler, S., Mei, D., Melani, F., Shashi, V., Yaron, Y., Steele, M., Wakeling, E., Østergaard, E., Nazaryan-Petersen, L., Millan, F., Santiago-Sim, T., Thevenon, J., Bruel, A.L., Thauvin-Robinet, C., Popp, D., Platzer, K., Gawlinski, P., Wiszniewski, W., Marafi, D., Pehlivan, D., Posey, J.E., Gibbs, R.A., Gailus-Durner, V., Guerrini, R., Fuchs, H., Hrabě de Angelis, M., Hölter, S.M., Cheung, H.H., Gu, S., Lupski, J.R.

المصدر: Am. J. Hum. Genet. 110, 1394-1413 (2023)

مصطلحات موضوعية: Charcot-marie-tooth Disease, Dexd/h-box Rna Helicases, Dhx9, Dna Damage Repair, R-loops, Allelic Series, Epilepsy, Homologous Recombination, Neurodevelopmental Disorders, Neuropathy

Relation: info:eu-repo/semantics/altIdentifier/pmid/37467750; info:eu-repo/semantics/altIdentifier/wos/001054722500001; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/alt

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68088
https://doi.org/10.1016/j.ajhg.2023.06.013

المؤلفون: Biliciler, S., Kwan, J.

المصدر: Neuromuscular Disorders ; volume 33, page S190 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.486
https://api.elsevier.com/content/article/PII:S0960896623006661?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623006661?httpAccept=text/plain

المؤلفون: Phan, C., Kwan, J., Deboo, A., Biliciler, S.

المصدر: Neuromuscular Disorders ; volume 29, page S42 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2019.06.032
https://api.elsevier.com/content/article/PII:S0960896619304201?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896619304201?httpAccept=text/plain