نتائج البحث - "Bye AME"

1

Academic Journal

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

المؤلفون: Balestrini, S., Mikati, M.A., Álvarez-García-Rovés, R., Carboni, M., Hunanyan, A.S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., Veneselli, E., Campistol, J., Fons, C., Pias-Peleteiro, L., Brashear, A., Miller, C., Samões, R., Brankovic, V., Padiath, Q.S., Potic, A., Pilch, J., Vezyroglou, A., Bye, AME, Davis, A.M., Ryan, M.M., Semsarian, C., Hollingsworth, G., Scheffer, I.E., Granata, T., Nardocci, N., Ragona, F., Arzimanoglou, A., Panagiotakaki, E., Carrilho, I., Zucca, C., Novy, J., Dzieżyc, K., Parowicz, M., Mazurkiewicz-Bełdzińska, M., Weckhuysen, S., Pons, R., Groppa, S., Sinden, D.S., Pitt, G.S., Tinker, A., Ashworth, M., Michalak, Z., Thom, M., Cross, J.H., Vavassori, R., Kaski, J.P., Sisodiya, S.M.

المصدر: Neurology, vol. 95, no. 21, pp. e2866-e2879

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32913013; info:eu-repo/semantics/altIdentifier/eissn/1526-632X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C9EB42E436AF2; https://serval.unil.ch/notice/serval:BIB_C9EB42E436AF; https://serval.unil.ch/resource/serval:BIB_C9EB42E436AF.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C9EB42E436AF
https://doi.org/10.1212/WNL.0000000000010794
https://serval.unil.ch/resource/serval:BIB_C9EB42E436AF.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C9EB42E436AF2

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2

Academic Journal

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

المؤلفون: Balestrini, S, Mikati, MA, Garcia-Roves, RA, Carboni, M, Hunanyan, AS, Kherallah, B, McLean, M, Prange, L, De Grandis, E, Gagliardi, A, Pisciotta, L, Stagnaro, M, Veneselli, E, Campistol, J, Fons, C, Pias-Peleteiro, L, Brashear, A, Miller, C, Samoes, R, Brankovic, V, Padiath, QS, Potic, A, Pilch, J, Vezyroglou, K, Bye, AME, Davis, AM, Ryan, MM, Semsarian, C, Hollingsworth, G, Scheffer, IE, Granata, T, Nardocci, N, Ragona, F, Arzimanoglou, A, Panagiotakaki, E, Carrilho, I, Zucca, C, Novy, J, Dzieżyc, K, Parowicz, M, Mazurkiewicz-Bełdzińska, M, Weckhuysen, S, Pons, R, Groppa, S, Sinden, DS, Pitt, GS, Tinker, A, Ashworth, M, Michalak, Z, Thom, M, Cross, JH, Vavassori, R, Kaski, JP, Sisodiya, SM

المصدر: Neurology , 95 (21) e2866-e2879. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10110385/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10110385/

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3

Academic Journal

QUALITY OF LIFE IN CHILDHOOD EPILEPSY: VALIDATING THE QOLCE

المؤلفون: Connolly, AM, Sabaz, M, Lawson, JA, Bye, AME, Cairns, DR

المصدر: Journal of Paediatrics and Child Health ; volume 41, issue 3, page 157-158 ; ISSN 1034-4810 1440-1754

الاتاحة: http://dx.doi.org/10.1111/j.1440-1754.2005.570_2.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1440-1754.2005.570_2.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1440-1754.2005.570_2.x
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/j.1440-1754.2005.570_2.x

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4

Academic Journal

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

المؤلفون: Carvill, GL, Heavin, SB, Yendle, SC, McMahon, JM, O'Roak, BJ, Cook, J, Khan, A, Dorschner, MO, Weaver, M, Calvert, S, Malone, S, Wallace, G, Stanley, T, Bye, AME, Bleasel, A, Howell, KB, Kivity, S, Mackay, MT, Rodriguez-Casero, V, Webster, R, Korczyn, A, Afawi, Z, Zelnick, N, Lerman-Sagie, T, Lev, D, Moller, RS, Gill, D, Andrade, DM, Freeman, JL, Sadleir, LG, Shendure, J, Berkovic, SF, Scheffer, IE, Mefford, HC

Relation: NHMRC/628952; NHMRC/1006110; pii: ng.2646; Carvill, G. L., Heavin, S. B., Yendle, S. C., McMahon, J. M., O'Roak, B. J., Cook, J., Khan, A., Dorschner, M. O., Weaver, M., Calvert, S., Malone, S., Wallace, G., Stanley, T., Bye, A. M. E., Bleasel, A., Howell, K. B., Kivity, S., Mackay, M. T., Rodriguez-Casero, V. ,. Mefford, H. C. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. NATURE GENETICS, 45 (7), pp.825-U158. https://doi.org/10.1038/ng.2646.; http://hdl.handle.net/11343/41805

الاتاحة: http://hdl.handle.net/11343/41805

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