Terashima H - Search Results

1

Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

Kosaki R, Terashima H, Kubota M, Kosaki K. Kosaki R, et al. Among authors: terashima h. Am J Med Genet A. 2017 Jan;173(1):250-253. doi: 10.1002/ajmg.a.37995. Epub 2016 Nov 7. Am J Med Genet A. 2017. PMID: 27991732 Review.

2

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.

Kosaki R, Ono H, Terashima H, Kosaki K. Kosaki R, et al. Among authors: terashima h. Am J Med Genet A. 2018 Jul;176(7):1657-1661. doi: 10.1002/ajmg.a.38833. Epub 2018 May 7. Am J Med Genet A. 2018. PMID: 29736926

3

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: terashima h. Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993195 Free PMC article.

4

Characterization of SPATA5-related encephalopathy in early childhood.

Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M. Kurata H, et al. Among authors: terashima h. Clin Genet. 2016 Nov;90(5):437-444. doi: 10.1111/cge.12813. Epub 2016 Jul 4. Clin Genet. 2016. PMID: 27246907

5

A Simplified Electroencephalogram Monitoring System in the Emergency Room.

Nozawa M, Terashima H, Tsuji S, Kubota M. Nozawa M, et al. Among authors: terashima h. Pediatr Emerg Care. 2019 Jul;35(7):487-492. doi: 10.1097/PEC.0000000000001033. Pediatr Emerg Care. 2019. PMID: 28072672

6

Prolonged mild disturbance of consciousness and acute encephalopathy.

Kanamori K, Terashima H, Anzai M, Ishiguro A, Kubota M. Kanamori K, et al. Among authors: terashima h. Pediatr Int. 2019 Feb;61(2):175-179. doi: 10.1111/ped.13753. Epub 2019 Feb 7. Pediatr Int. 2019. PMID: 30554443

7

Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.

Abe Y, Terashima H, Hoshino H, Sassa K, Sakai T, Ohtake A, Kubota M, Yamanouchi H. Abe Y, et al. Among authors: terashima h. Brain Dev. 2015 Oct;37(9):894-6. doi: 10.1016/j.braindev.2015.01.006. Epub 2015 Feb 14. Brain Dev. 2015. PMID: 25687202

8

Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis.

Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, Hoshino H, Sugita K, Hayashi M. Kubota M, et al. Among authors: terashima h. Pediatr Int. 2015 Jun;57(3):339-47. doi: 10.1111/ped.12635. Pediatr Int. 2015. PMID: 25851792 Review.

9

Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".

Abe Y, Terashima H, Hoshino H, Sassa K, Sakai T, Ohtake A, Kubota M, Yamanouchi H. Abe Y, et al. Among authors: terashima h. Brain Dev. 2016 Jan;38(1):174. doi: 10.1016/j.braindev.2015.04.009. Epub 2015 May 8. Brain Dev. 2016. PMID: 25963376 No abstract available.

10

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

Saitoh M, Ishii A, Ihara Y, Hoshino A, Terashima H, Kubota M, Kikuchi K, Yamanaka G, Amemiya K, Hirose S, Mizuguchi M. Saitoh M, et al. Among authors: terashima h. Epilepsy Res. 2015 Nov;117:1-6. doi: 10.1016/j.eplepsyres.2015.08.001. Epub 2015 Aug 6. Epilepsy Res. 2015. PMID: 26311622

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