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Hereditary Myopathy with Early Respiratory Failure.
Pfeffer G, Chinnery PF. Pfeffer G, et al. 2014 Feb 27 [updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Feb 27 [updated 2024 Dec 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24575448 Free Books & Documents. Review.
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
Klein KM, Mascarenhas R, Merrikh D, Khanbabaei M, Maroilley T, Kaur N, Liu Y, Soule T, Manalo M, Tamura G, Jacobs J, Hader W, Pfeffer G, Tarailo-Graovac M. Klein KM, et al. Among authors: pfeffer g. Epilepsia. 2024 Jun;65(6):1768-1776. doi: 10.1111/epi.17980. Epub 2024 Apr 8. Epilepsia. 2024. PMID: 38587282
124 results