Sökresultat - Nair, Umesh
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1
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes av Li, Xiaoyang, Zheng, Yongsheng, Li, Shaoyuan, Nair, Umesh, Sun, Chong, Zhao, Chongbo, Lu, Jiahong, Zhang, Victor Wei, Maljevic, Snezana, Petrou, Steven, Lin, Jie
Publicerad 2021Text -
2
A targeted resequencing gene panel for focal epilepsy av Hildebrand, Michael S., Myers, Candace T., Carvill, Gemma L., Regan, Brigid M., Damiano, John A., Mullen, Saul A., Newton, Mark R., Nair, Umesh, Gazina, Elena V., Milligan, Carol J., Reid, Christopher A., Petrou, Steven, Scheffer, Ingrid E., Berkovic, Samuel F., Mefford, Heather C.
Publicerad 2016Text -
3
KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine av Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F, Petrou, Steven
Publicerad 2014Text -
4
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations av Cameron, Jillian M., Maljevic, Snezana, Nair, Umesh, Aung, Ye Htet, Cogné, Benjamin, Bézieau, Stéphane, Blair, Edward, Isidor, Bertrand, Zweier, Christiane, Reis, André, Koenig, Mary Kay, Maarup, Timothy, Sarco, Dean, Afenjar, Alexandra, Huq, A. H. M. Mahbubul, Kukolich, Mary, Billette de Villemeur, Thierry, Nava, Caroline, Héron, Bénédicte, Petrou, Steven, Berkovic, Samuel F.
Publicerad 2019Text -
5
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy av McTague, Amy, Nair, Umesh, Malhotra, Sony, Meyer, Esther, Trump, Natalie, Gazina, Elena V., Papandreou, Apostolos, Ngoh, Adeline, Ackermann, Sally, Ambegaonkar, Gautam, Appleton, Richard, Desurkar, Archana, Eltze, Christin, Kneen, Rachel, Kumar, Ajith V., Lascelles, Karine, Montgomery, Tara, Ramesh, Venkateswaran, Samanta, Rajib, Scott, Richard H., Tan, Jeen, Whitehouse, William, Poduri, Annapurna, Scheffer, Ingrid E., Chong, W.K. “Kling”, Cross, J. Helen, Topf, Maya, Petrou, Steven, Kurian, Manju A.
Publicerad 2018Text