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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16.
Ann Clin Transl Neurol. 2023.
PMID: 37194416
Free PMC article.
New-onset Parkinsonism as a Covid-19 infection sequela: A systematic review and meta-analysis.
Ali SS, Mumtaz A, Qamar MA, Tebha SS, Parhin A, Butt M, Essar MY.
Ali SS, et al. Among authors: parhin a.
Ann Med Surg (Lond). 2022 Aug;80:104281. doi: 10.1016/j.amsu.2022.104281. Epub 2022 Aug 8.
Ann Med Surg (Lond). 2022.
PMID: 35971509
Free PMC article.
Review.
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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM.
Stergachis AB, et al. Among authors: parhin a.
Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct.
Neurol Genet. 2023.
PMID: 37560121
Free PMC article.
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Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM.
Stergachis AB, et al. Among authors: parhin a.
bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.526487. doi: 10.1101/2023.02.07.526487.
bioRxiv. 2023.
PMID: 36798371
Free PMC article.
Updated.
Preprint.
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