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Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Ye Z, Lin S, Zhao X, Bennett MF, Brown NJ, Wallis M, Gao X, Sun L, Wu J, Vedururu R, Witkowski T, Gardiner F, Stutterd C, Duan J, Mullen SA, McGillivray G, Bodek S, Valente G, Reagan M, Yao Y, Li L, Chen L, Boys A, Adikari TN, Cao D, Hu Z, Beshay V, Zhang VW, Berkovic SF, Scheffer IE, Liao J, Hildebrand MS. Ye Z, et al. Among authors: scheffer ie. Hum Mutat. 2022 Dec;43(12):1956-1969. doi: 10.1002/humu.24454. Epub 2022 Sep 6. Hum Mutat. 2022. PMID: 36030538
Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis.
Ye Z, Lin S, Zhao X, Wallis M, Gao X, Sun L, Wu J, Duan J, Yao Y, Li L, Chen L, Cao D, Hu Z, Zhang VW, Berkovic SF, Scheffer IE, Liao J, Hildebrand MS. Ye Z, et al. Among authors: scheffer ie. Pediatr Neurol. 2024 Jan;150:37-39. doi: 10.1016/j.pediatrneurol.2023.10.008. Epub 2023 Oct 22. Pediatr Neurol. 2024. PMID: 37951160 Free article. No abstract available.
Epilepsies with single gene inheritance.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. Brain Dev. 1997. PMID: 9071484 Review.
Genetics of the epilepsies.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Curr Opin Neurol. 1999 Apr;12(2):177-82. doi: 10.1097/00019052-199904000-00008. Curr Opin Neurol. 1999. PMID: 10226750 Review.
654 results