Kira R - Search Results

1

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Lu Y, Chong PF, Kira R, Seto T, Ondo Y, Shimojima K, Yamamoto T. Lu Y, et al. Among authors: kira r. J Pediatr Genet. 2017 Dec;6(4):234-237. doi: 10.1055/s-0037-1603194. Epub 2017 May 16. J Pediatr Genet. 2017. PMID: 29142766 Free PMC article.

2

A magnetoencephalographic study on development of the somatosensory cortex in infants.

Gondo K, Tobimatsu S, Kira R, Tokunaga Y, Yamamoto T, Hara T. Gondo K, et al. Among authors: kira r. Neuroreport. 2001 Oct 29;12(15):3227-31. doi: 10.1097/00001756-200110290-00017. Neuroreport. 2001. PMID: 11711861

3

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.

Chong PF, Haraguchi K, Torio M, Kirino M, Ogata R, Matsukura M, Sakai Y, Ishizaki Y, Yamamoto T, Kira R. Chong PF, et al. Among authors: kira r. Brain Dev. 2015 Jan;37(1):171-4. doi: 10.1016/j.braindev.2014.02.007. Epub 2014 Mar 17. Brain Dev. 2015. PMID: 24650581

4

Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant RNF213 p.R4810K.

Chong PF, Ogata R, Kobayashi H, Koizumi A, Kira R. Chong PF, et al. Among authors: kira r. Brain Dev. 2015 Sep;37(8):822-4. doi: 10.1016/j.braindev.2014.12.006. Epub 2014 Dec 26. Brain Dev. 2015. PMID: 25547042

5

Water immersion-induced skin wrinkling test in complex regional pain syndrome.

Chong PF, Matsukura M, Kira R. Chong PF, et al. Among authors: kira r. Pediatr Neurol. 2015 Jun;52(6):649-50. doi: 10.1016/j.pediatrneurol.2015.02.022. Epub 2015 Feb 28. Pediatr Neurol. 2015. PMID: 25828479 No abstract available.

6

Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation.

Chong PF, Nakamura R, Saitsu H, Matsumoto N, Kira R. Chong PF, et al. Among authors: kira r. Ann Neurol. 2016 Mar;79(3):502-3. doi: 10.1002/ana.24598. Epub 2016 Feb 12. Ann Neurol. 2016. PMID: 26748457 No abstract available.

7

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach.

Yamamoto T, Shimojima K, Ondo Y, Imai K, Chong PF, Kira R, Amemiya M, Saito A, Okamoto N. Yamamoto T, et al. Among authors: kira r. Hum Genome Var. 2016 Aug 18;3:16025. doi: 10.1038/hgv.2016.25. eCollection 2016. Hum Genome Var. 2016. PMID: 27579173 Free PMC article.

8

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Yamamoto T, Lu Y, Nakamura R, Shimojima K, Kira R. Yamamoto T, et al. Among authors: kira r. Congenit Anom (Kyoto). 2018 Jul;58(4):143-144. doi: 10.1111/cga.12251. Epub 2017 Oct 12. Congenit Anom (Kyoto). 2018. PMID: 28862359 No abstract available.

9

Clinical Features of Acute Flaccid Myelitis Temporally Associated With an Enterovirus D68 Outbreak: Results of a Nationwide Survey of Acute Flaccid Paralysis in Japan, August-December 2015.

Chong PF, Kira R, Mori H, Okumura A, Torisu H, Yasumoto S, Shimizu H, Fujimoto T, Hanaoka N, Kusunoki S, Takahashi T, Oishi K, Tanaka-Taya K; Acute Flaccid Myelitis Collaborative Study Investigators. Chong PF, et al. Among authors: kira r. Clin Infect Dis. 2018 Feb 10;66(5):653-664. doi: 10.1093/cid/cix860. Clin Infect Dis. 2018. PMID: 29028962 Free PMC article.

10

Mulberries in the urine: a tell-tale sign of Fabry disease.

Chong PF, Nakamura K, Kira R. Chong PF, et al. Among authors: kira r. J Inherit Metab Dis. 2018 Jul;41(4):745-746. doi: 10.1007/s10545-018-0155-6. Epub 2018 Feb 27. J Inherit Metab Dis. 2018. PMID: 29488049

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