المؤلفون: Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., O'Day, D., Alswaid, A., Ramadevi, Radha A., Lingappa, L., Lourenco, C., Martorell, L., Garcia-Cazorla, A., Ozyurek, H., Haliloglu, G., Tuysuz, B., Topcu, M., Chance, P., Parisi, M. A., Glass, I. A., Shendure, J., Doherty, D.

المساهمون: Çocuk ve Ergen Ruh Sağlığı ve Hastalıkları

مصطلحات موضوعية: Genetics & Heredity

وصف الملف: text/plain; application/pdf

Relation: Journal Of Medical Genetics; https://doi.org/10.1136/jmedgenet-2015-103087; http://hdl.handle.net/11655/14531; 52; 514; 522

الاتاحة: http://hdl.handle.net/11655/14531
https://doi.org/10.1136/jmedgenet-2015-103087

المؤلفون: Dobyns, WB, Aldinger, KA, Ishak, G E, Mirzaa, GM, Timms, AE, Grout, ME, Dremmen, Marjolein, Schot, Rachel, Vandervore, Laura, van Slegtenhorst, Marjon, Wilke, Martina, Kasteleijn, E, Lee, AS, Barry, BJ, Chao, KR, Szczaluba, K, Kobori, J, Hanson-Kahn, A, Bernstein, JA, Carr, L, D'Arco, F, Miyana, K, Okazaki, T, Saito, Y, Sasaki, M, Das, S, Wheeler, MM, Bamshad, MJ, Nickerson, DA, Engle, EC, Verheijen, Frans, Doherty, D, Verheijen - Mancini, Grazia

المصدر: Dobyns , WB , Aldinger , KA , Ishak , G E , Mirzaa , GM , Timms , AE , Grout , ME , Dremmen , M , Schot , R , Vandervore , L , van Slegtenhorst , M , Wilke , M , Kasteleijn , E , Lee , AS , Barry , BJ , Chao , KR , Szczaluba , K , Kobori , J , Hanson-Kahn , A , Bernstein , JA , Carr , L , D'Arco , F , Miyana , K , Okazaki , T , Saito , Y , Sasaki ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES033002, name=EMC NIHES-03-30-02

الاتاحة: https://pure.eur.nl/en/publications/21f04098-9539-42c6-a0aa-d31198a286af
https://doi.org/10.1016/j.ajhg.2018.10.019
http://hdl.handle.net/1765/113383

المؤلفون: Oegema, Renske, Cushion, TD, Phelps, I G, Chung, S K, Dempsey, J C, Collins, S, Mullins, J G L, Dudding, T, Gill, H, Green, AJ, Dobyns, WB, Ishak, G E, Rees, MI, Doherty, D

المصدر: Oegema , R , Cushion , TD , Phelps , I G , Chung , S K , Dempsey , J C , Collins , S , Mullins , J G L , Dudding , T , Gill , H , Green , AJ , Dobyns , WB , Ishak , G E , Rees , MI & Doherty , D 2015 , ' Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes ' , Human Molecular Genetics , vol. 24 , no. 18 , pp. 5313-5325 . https://doi.org/10.1093/hmg/ddv250

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01

الاتاحة: https://pure.eur.nl/en/publications/d4946cac-4aef-473e-8583-221837cb3b43
https://doi.org/10.1093/hmg/ddv250

المؤلفون: Rafiq, M. A., Kuss, A. W., Puettmann, A. L., Noor, A., Ramiah, A., Ali, G., Hu, H., Kerio, N. A., Xiang, Y., Garshasbi, M., Khan, M. A., Ishak, G. E., Weksberg, R., Ullman, R., Tzschach, A., Kahrizi, K., Mahmood, K., Naeem, F., Ayub, M., Moremen, K. W., Vincent, J. B., Ropers, H. H., Ansar, M., Najmabadi, H.

المصدر: American journal of human genetics, 2011, Vol.89(1), pp.176-182 [Peer Reviewed Journal]

Relation: dro:8589; http://dro.dur.ac.uk/8589/; http://dx.doi.org/10.1016/j.ajhg.2011.06.006

الاتاحة: http://dro.dur.ac.uk/8589/
https://doi.org/10.1016/j.ajhg.2011.06.006

المؤلفون: Mir, A., Kaufman, L., Noor, A., Motazacker, M. M., Jamil, T., Azam, M., Kahrizi, K., Rafiq, M. A., Weksberg, R., Nasr, T., Naeem, F., Tzschach, A., Kuss, A. W., Ishak, G. E., Doherty, D., Ropers, H. H., Barkovich, A. J., Najmabadi, H., Ayub, M., Vincent, J. B.

المصدر: American journal of human genetics, 2009, Vol.85(6), pp.909-915 [Peer Reviewed Journal]

Relation: dro:8375; http://dro.dur.ac.uk/8375/; http://dx.doi.org/10.1016/j.ajhg.2009.11.009

الاتاحة: http://dro.dur.ac.uk/8375/
https://doi.org/10.1016/j.ajhg.2009.11.009

المؤلفون: Fink, K. R., Thapa, M. M., Ishak, G. E., Pruthi, S.

المصدر: Neuroradiologie Scan; January 2012, Vol. 2 Issue: 1 p37-54, 18p