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Scientific Reports|August 19, 2021
Evidence of both foetal inflammation and hypoxia-ischaemia is associated with meconium aspiration syndromeKyoko Yokoi, Osuke Iwata, Satoru Kobayashi, et al.The Neurologist|June 30, 2011
Adult Leigh disease without failure to thriveKen Sakushima, Sachiko Tsuji-Akimoto, Masaaki Niino, et al.Epilepsia Open|August 24, 2019
De novo variants in <i>SETD1B</i> cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absencesTakuya Hiraide, Ayako Hattori, Daisuke Ieda, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|January 20, 2012
Early-onset absence epilepsy at eight months of ageYu Kobayashi, Noriyuki Akasaka, Tsukasa Ohashi, et al.JPGN Reports|May 11, 2023
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal CholestasisShogo Ito, Takao Togawa, Kazuo Imagawa, et al.The Tohoku Journal of Experimental Medicine|November 10, 2015
Pitfall in the Diagnosis of Fructose-1,6-Bisphosphatase Deficiency: Difficulty in Detecting Glycerol-3-Phosphate with Solvent Extraction in Urinary GC/MS AnalysisSayaka Kato, Yoko Nakajima, Risa Awaya, et al.Journal of Human Genetics|August 9, 2022
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseasesDaiki Kato, Satomi Mitsuhashi, Fuyuki Miya, et al.Diagnostics (Basel, Switzerland)|April 12, 2025
Incidence and Risk Factors of White Matter Lesions in Moderate and Late Preterm InfantsKentaro Ueda, Kennosuke Tsuda, Takaharu Yamada, et al.Journal of Neurology|February 9, 2011
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonismKazunori Sato, Ichiro Yabe, Hiroaki Yaguchi, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|April 15, 2015
Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndromeIkumi Hori, Haruna Nakaseko, Michi Kamei, et al.Pageof 27