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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: matsumoto n, matsumoto h. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
Cardiopulmonary arrest caused by craniometaphyseal dysplasia.
Chida A, Yanagawa Y, Matsumoto H, Nonoyama S. Chida A, et al. Among authors: matsumoto h. Indian J Pediatr. 2011 Aug;78(8):1010-2. doi: 10.1007/s12098-011-0374-4. Epub 2011 Feb 17. Indian J Pediatr. 2011. PMID: 21328078
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. Uehara DT, et al. Among authors: matsumoto h. J Hum Genet. 2016 Apr;61(4):335-43. doi: 10.1038/jhg.2015.154. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740234
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N. Saitsu H, et al. Among authors: matsumoto n, matsumoto h. Sci Rep. 2016 Jul 20;6:30072. doi: 10.1038/srep30072. Sci Rep. 2016. PMID: 27436767 Free PMC article.
4,939 results