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Congenital Anomalies|July 4, 2020
Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1BTakako Fujita, Yukiko Ihara, Hitomi Hayashi, et al.Brain & Development|September 24, 2013
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsyTakahito Inoue, Yukiko Ihara, Yuko Tomonoh, et al.Seizure|April 23, 2011
Diagnosing nocturnal frontal lobe epilepsy: a case study of two childrenYuko Tomonoh, Sawa Yasumoto, Yukiko Ihara, et al.Human Mutation|August 18, 2021
Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 23, 2004
Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosisChairat Shayakul, Petr Jarolim, Marie Zachlederova, et al.Journal of Human Genetics|June 15, 2012
Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplicationKeiko Shimojima, Takahito Inoue, Yuki Imai, et al.Journal of Pediatric Hematology/Oncology|February 6, 2009
Hereditary spherocytosis in 3 children coexisting with UDP-glucuronyl transferase 1A1 deficiencyMitsutaka Shiota, Junko Asada, Hitoshi Nishida, et al.Pageof 2