المؤلفون: Stamberger, H, Hammer, TB, Gardella, E, Vlaskamp, DRM, Bertelsen, B, Mandelstam, S, Lange, I, Zhang, J, Myers, CT, Fenger, C, Afawi, Z, Almanza Fuerte, EP, Andrade, DM, Balcik, Y, Ben Zeev, B, Bennett, MF, Berkovic, SF, Isidor, B, Bouman, Arjan, Brilstra, E, Busk, ØL, Cairns, A, Caumes, R, Chatron, N, Dale, RC, de Geus, C, Edery, P, Gill, D, Granild-Jensen, JB, Gunderson, L, Gunning, B, Heimer, G, Helle, JR, Hildebrand, MS, Hollingsworth, G, Kharytonov, V, Klee, EW, Koeleman, BPC, Koolen, DA (David), Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, RJ, Mackay, MT, Macke, EL, McEntagart, M, Mohammad, SS, Monin, P, Montomoli, M

المصدر: Stamberger , H , Hammer , TB , Gardella , E , Vlaskamp , DRM , Bertelsen , B , Mandelstam , S , Lange , I , Zhang , J , Myers , CT , Fenger , C , Afawi , Z , Almanza Fuerte , EP , Andrade , DM , Balcik , Y , Ben Zeev , B , Bennett , MF , Berkovic , SF , Isidor , B , Bouman , A , Brilstra , E , Busk , ØL , Cairns , A , Caumes , R , Chatron , N , Dale ....

الإتاحة: https://doi.org/10.1038/s41436-020-00988-9Test
https://pure.eur.nl/en/publications/be1c259f-7c9a-4ffe-8c90-cf355d9e1348Test
http://www.gimjournal.org/article/S109836002102548X/pdfTest

المؤلفون: Morcom, L, Edwards, TJ, Rider, E, Jones-Davis, D, Lim, JWC, Chen, K-S, Dean, RJ, Bunt, J, Ye, Y, Gobius, L, Suarez, R, Mandelstam, S, Sherr, EH, Richards, LJ

العلاقة: pii: 61618; Morcom, L., Edwards, T. J., Rider, E., Jones-Davis, D., Lim, J. W. C., Chen, K. -S., Dean, R. J., Bunt, J., Ye, Y., Gobius, L., Suarez, R., Mandelstam, S., Sherr, E. H. & Richards, L. J. (2021). DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation. ELIFE, 10, https://doi.org/10.7554/eLife.61618Test.; http://hdl.handle.net/11343/304706Test

الإتاحة: https://doi.org/10.7554/eLife.61618Test
http://hdl.handle.net/11343/304706Test

المؤلفون: de Valles-Ibanez, G, Hildebrand, MS, Bahlo, M, King, C, Coleman, M, Green, TE, Goldsmith, J, Davis, S, Gill, D, Mandelstam, S, Scheffer, IE, Sadleir, LG

العلاقة: de Valles-Ibanez, G., Hildebrand, M. S., Bahlo, M., King, C., Coleman, M., Green, T. E., Goldsmith, J., Davis, S., Gill, D., Mandelstam, S., Scheffer, I. E. & Sadleir, L. G. (2021). Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype. EPILEPSIA OPEN, 7 (1), pp.170-180. https://doi.org/10.1002/epi4.12553Test.; http://hdl.handle.net/11343/301763Test

الإتاحة: https://doi.org/10.1002/epi4.12553Test
http://hdl.handle.net/11343/301763Test

المؤلفون: Heath, O, Pitt, J, Mandelstam, S, Kuschel, C, Vasudevan, A, Donoghue, S

العلاقة: pii: JMD212183; Heath, O., Pitt, J., Mandelstam, S., Kuschel, C., Vasudevan, A. & Donoghue, S. (2021). Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature. JIMD Rep, 58 (1), pp.3-11. https://doi.org/10.1002/jmd2.12183Test.; http://hdl.handle.net/11343/304602Test

الإتاحة: https://doi.org/10.1002/jmd2.12183Test
http://hdl.handle.net/11343/304602Test

المؤلفون: Stutterd, CA, Brock, S, Stouffs, K, Fanjul-Fernandez, M, Lockhart, PJ, McGillivray, G, Mandelstam, S, Pope, K, Delatycki, MB, Jansen, A, Leventer, RJ

العلاقة: pii: fcaa221; Stutterd, C. A., Brock, S., Stouffs, K., Fanjul-Fernandez, M., Lockhart, P. J., McGillivray, G., Mandelstam, S., Pope, K., Delatycki, M. B., Jansen, A. & Leventer, R. J. (2021). Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing. BRAIN COMMUNICATIONS, 3 (1), https://doi.org/10.1093/braincomms/fcaa221Test.; http://hdl.handle.net/11343/297034Test

الإتاحة: https://doi.org/10.1093/braincomms/fcaa221Test
http://hdl.handle.net/11343/297034Test

المؤلفون: Johnson, AM, Mandelstam, S, Andrews, I, Boysen, K, Yaplito-Lee, J, Fietz, M, Nagarajan, L, Rodriguez-Casero, V, Ryan, MM, Smith, N, Scheffer, IE, Ellaway, C

العلاقة: Johnson, A. M., Mandelstam, S., Andrews, I., Boysen, K., Yaplito-Lee, J., Fietz, M., Nagarajan, L., Rodriguez-Casero, V., Ryan, M. M., Smith, N., Scheffer, I. E. & Ellaway, C. (2020). Neuronal Ceroid Lipofuscinosis type 2: an Australian case series. JOURNAL OF PAEDIATRICS AND CHILD HEALTH, 56 (8), pp.1210-1218. https://doi.org/10.1111/jpc.14890Test.; http://hdl.handle.net/11343/251463Test

الإتاحة: https://doi.org/10.1111/jpc.14890Test
http://hdl.handle.net/11343/251463Test

المؤلفون: Arrigoni, F, Peruzzo, D, Mandelstam, S, Amorosino, G, Redaelli, D, Romaniello, R, Leventer, R, Borgatti, R, Seal, M, Yang, JY-M

العلاقة: pii: ajnr.A6646; Arrigoni, F., Peruzzo, D., Mandelstam, S., Amorosino, G., Redaelli, D., Romaniello, R., Leventer, R., Borgatti, R., Seal, M. & Yang, J. Y. -M. (2020). Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study. AMERICAN JOURNAL OF NEURORADIOLOGY, 41 (8), pp.1495-1502. https://doi.org/10.3174/ajnr.A6646Test.; http://hdl.handle.net/11343/252134Test

الإتاحة: https://doi.org/10.3174/ajnr.A6646Test
http://hdl.handle.net/11343/252134Test

المؤلفون: Oegema, R, McGillivray, G, Leventer, R, Le Moing, AG, Bahi-Buisson, N, Barnicoat, A, Mandelstam, S, Francis, D, Francis, F, Verheijen - Mancini, Grazia, Savelberg, S, van Haaften, G, Mankad, K, Lequin, MH

المصدر: Oegema , R , McGillivray , G , Leventer , R , Le Moing , AG , Bahi-Buisson , N , Barnicoat , A , Mandelstam , S , Francis , D , Francis , F , Verheijen - Mancini , G , Savelberg , S , van Haaften , G , Mankad , K & Lequin , MH 2019 , ' EML1-associated brain overgrowth syndrome with ribbon-like heterotopia ' , American Journal of Medical Genetics, Part C: Seminars in Medical Genetics , vol. 181 , no. 4 , pp. 627-637 . https://doi.org/10.1002/ajmg.c.31751Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/ajmg.c.31751Test
https://pure.eur.nl/en/publications/8eb99243-842e-4a91-9542-bf9c661c73a9Test
https://pure.eur.nl/ws/files/48314248/Repub_121778_O-A.pdfTest

المؤلفون: Ware, TL, Huskins, SR, Grinton, BE, Liu, Y-C, Bennett, MF, Harvey, M, McMahon, J, Andreopoulos-Malikotsinas, D, Bahlo, M, Howell, KB, Hildebrand, MS, Damiano, JA, Rosenfeld, A, Mackay, MT, Mandelstam, S, Leventer, RJ, Harvey, AS, Freeman, JL, Scheffer, IE, Jones, DL, Berkovic, SF

العلاقة: NHMRC/1091593; NHMRC/1104831; pii: EPI412350; Ware, T. L., Huskins, S. R., Grinton, B. E., Liu, Y. -C., Bennett, M. F., Harvey, M., McMahon, J., Andreopoulos-Malikotsinas, D., Bahlo, M., Howell, K. B., Hildebrand, M. S., Damiano, J. A., Rosenfeld, A., Mackay, M. T., Mandelstam, S., Leventer, R. J., Harvey, A. S., Freeman, J. L., Scheffer, I. E. ,. Berkovic, S. F. (2019). Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania. EPILEPSIA OPEN, 4 (3), pp.504-510. https://doi.org/10.1002/epi4.12350Test.; http://hdl.handle.net/11343/249976Test

الإتاحة: https://doi.org/10.1002/epi4.12350Test
http://hdl.handle.net/11343/249976Test

المؤلفون: Liégeois, FJ, Turner, SJ, Mayes, A, Bonthrone, AF, Boys, A, Smith, L, Parry-Fielder, B, Mandelstam, S, Spencer-Smith, M, Bahlo, M, Scerri, TS, Hildebrand, MS, Scheffer, IE, Connelly, A, Morgan, AT

المصدر: Brain , 142 (4) pp. 966-977. (2019)

مصطلحات موضوعية: speech, speech disorder, MRI, inherited, childhood apraxia of speech

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10066393/1/Liegeois_BRAIN-2018-01392_manuscript_R2_final_clean%20copy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10066393/7/Liegeois_BRAIN-2018-01392_SupMat_R2_final_clean%20copy.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10066393Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10066393/1/Liegeois_BRAIN-2018-01392_manuscript_R2_final_clean%20copy.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10066393/7/Liegeois_BRAIN-2018-01392_SupMat_R2_final_clean%20copy.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10066393Test/