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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis.
BMC Nephrol. 2017 Dec 4;18(1):353. doi: 10.1186/s12882-017-0774-4.
BMC Nephrol. 2017.
PMID: 29202719
Free PMC article.
Diurnal occurrence of complex febrile seizure and their severity in pediatric patients needing hospitalization.
Yamaguchi H, Nagase H, Ishida Y, Toyoshima D, Maruyama A, Tomioka K, Tanaka T, Nishiyama M, Fujita K, Mariko TI, Nozu K, Morioka I, Nishimura N, Kurosawa H, Takada S, Uetani Y, Iijima K.
Yamaguchi H, et al. Among authors: mariko ti.
Epilepsy Behav. 2018 Mar;80:280-284. doi: 10.1016/j.yebeh.2018.01.015.
Epilepsy Behav. 2018.
PMID: 29422395
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Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
Endo H, Uenaka T, Satake W, Suzuki Y, Tachibana H, Chihara N, Ueda T, Sekiguchi K, Mariko TI, Kowa H, Kanda F, Toda T.
Endo H, et al. Among authors: mariko ti.
Neurol Clin Neurosci. 2017 Jul;5(4):131-133. doi: 10.1111/ncn3.12132. Epub 2017 Jun 29.
Neurol Clin Neurosci. 2017.
PMID: 28932395
Free PMC article.
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