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Schuurs-Hoeijmakers syndrome in two patients from Japan.
Hoshino Y, Enokizono T, Imagawa K, Tanaka R, Suzuki H, Fukushima H, Arai J, Sumazaki R, Uehara T, Takenouchi T, Kosaki K. Hoshino Y, et al. Among authors: tanaka r. Am J Med Genet A. 2019 Mar;179(3):341-343. doi: 10.1002/ajmg.a.9. Epub 2018 Dec 27. Am J Med Genet A. 2019. PMID: 30588754
Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination.
Tanaka R, Iwasaki N, Hayashi M, Nakayama J, Ohto T, Takahashi M, Numano T, Homma K, Hamano K, Sumazaki R. Tanaka R, et al. Brain Dev. 2012 Mar;34(3):234-7. doi: 10.1016/j.braindev.2011.05.008. Epub 2011 Jun 12. Brain Dev. 2012. PMID: 21669507
Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
Hatano M, Fukushima H, Ohto T, Ueno Y, Saeki S, Enokizono T, Tanaka R, Tanaka M, Imagawa K, Kanai Y, Kato M, Shiraku H, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H. Hatano M, et al. Among authors: tanaka m, tanaka r. Am J Med Genet A. 2021 Apr;185(4):1113-1119. doi: 10.1002/ajmg.a.62084. Epub 2021 Jan 27. Am J Med Genet A. 2021. PMID: 33506645
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N. Tsurusaki Y, et al. Among authors: tanaka r. J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25. J Hum Genet. 2015. PMID: 26108146
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: tanaka r. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126
4,601 results