Kira R - Search Results

1

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.

Yano N, Chong PF, Kojima KK, Miyoshi T, Luqman-Fatah A, Kimura Y, Kora K, Kayaki T, Maizuru K, Hayashi T, Yokoyama A, Ajiro M, Hagiwara M, Kondo T, Kira R, Takita J, Yoshida T. Yano N, et al. Among authors: kira r. J Med Genet. 2024 Sep 24;61(10):950-958. doi: 10.1136/jmg-2024-110056. J Med Genet. 2024. PMID: 38960580

2

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

3

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

4

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.

5

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.

6

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.

7

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.

8

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

9

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R. Chong PF, et al. Among authors: kira r. Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13. Seizure. 2018. PMID: 29929112 Free article.

10

Leucine-rich alpha-2 glycoprotein in the cerebrospinal fluid is a potential inflammatory biomarker for meningitis.

Chong PF, Sakai Y, Torisu H, Tanaka T, Furuno K, Mizuno Y, Ohga S, Hara T, Kira R. Chong PF, et al. Among authors: kira r. J Neurol Sci. 2018 Sep 15;392:51-55. doi: 10.1016/j.jns.2018.07.006. Epub 2018 Jul 10. J Neurol Sci. 2018. PMID: 30097155

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