Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ackermann, S."'
Autor:
McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E.V., Papandreou, A., Ngoh, A., Ackermann, S., Ambegaonkar, G., Appleton, R., Desurkar, A., Eltze, C., Kneen, R., Kumar, A.V., Lascelles, K., Montgomery, T., Ramesh, V., Samanta, R., Scott, R.H., Tan, J., Whitehouse, W., Poduri, A., Scheffer, I.E., Chong, W.K., Cross, J.H., Topf, Maya, Petrou, S., Kurian, M.A.
Objective: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy.\ud \ud Methods: We identified a cohort of 31 patients with epilepsy of infancy with migr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::af417019a3bf158c3cb5e7c3cd2a0ea7
https://eprints.bbk.ac.uk/id/eprint/20687/1/20687.pdf
https://eprints.bbk.ac.uk/id/eprint/20687/1/20687.pdf
Autor:
McTague, A., Nair, U., Malhotra, S., Meyer, E., Trump, N., Gazina, E.V., Papandreou, A., Ngoh, A., Ackermann, S., Ambegaonkar, G., Appleton, R., Desurkar, A., Eltze, C., Kneen, R., Kumar, A.V., Lascelles, K., Montgomery, T., Ramesh, V., Samanta, R., Scott, R.H., Tan, J., Whitehouse, W., Poduri, A., Scheffer, I.E., Chong, W.K. \\'Kling\\', Cross, H.K., Topf, Maya, Petrou, S., Kurian, M.A.
Objective: To characterise the phenotypic spectrum, molecular genetic findings and\ud functional consequences of pathogenic variants in early onset KCNT1-epilepsy.\ud Methods: We identified a cohort of 31 patients with epilepsy of infancy with\ud mig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::6f179b0f95f7329a5c2c467adad44864
https://eprints.bbk.ac.uk/id/eprint/20184/6/20184a.pdf
https://eprints.bbk.ac.uk/id/eprint/20184/6/20184a.pdf