Naritomi K - Search Results

1

Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome.

Suzumori N, Kaname T, Muramatsu Y, Yanagi K, Kumagai K, Mizuno S, Naritomi K, Saitoh S, Sugiura-Ogasawara M. Suzumori N, et al. Among authors: naritomi k. J Obstet Gynaecol Res. 2013 Nov;39(11):1545-7. doi: 10.1111/jog.12081. Epub 2013 Jul 2. J Obstet Gynaecol Res. 2013. PMID: 23815237

2

A commentary on the promise of whole-exome sequencing in medical genetics.

Kaname T, Yanagi K, Naritomi K. Kaname T, et al. Among authors: naritomi k. J Hum Genet. 2014 Mar;59(3):117-8. doi: 10.1038/jhg.2014.7. Epub 2014 Feb 6. J Hum Genet. 2014. PMID: 24500682 No abstract available.

3

A commentary on the diagnostic utility of exome sequencing in Joubert syndrome and related disorders.

Kaname T, Yanagi K, Naritomi K. Kaname T, et al. Among authors: naritomi k. J Hum Genet. 2013 Feb;58(2):57. doi: 10.1038/jhg.2012.138. Epub 2012 Nov 29. J Hum Genet. 2013. PMID: 23190750 No abstract available.

4

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.

Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K. Yanagi K, et al. Among authors: naritomi k. Autism Res Treat. 2012;2012:724072. doi: 10.1155/2012/724072. Epub 2012 Jul 16. Autism Res Treat. 2012. PMID: 22934180 Free PMC article.

5

Novel alternative splicing of human faciogenital dysplasia 1 gene.

Yanagi K, Kaname T, Chinen Y, Naritomi K. Yanagi K, et al. Among authors: naritomi k. Congenit Anom (Kyoto). 2004 Sep;44(3):137-41. doi: 10.1111/j.1741-4520.2004.00026.x. Congenit Anom (Kyoto). 2004. PMID: 15327482

6

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: naritomi k. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308

7

Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.

Kaname T, Yanagi K, Okamoto N, Naritomi K. Kaname T, et al. Among authors: naritomi k. Am J Med Genet A. 2006 Jun 15;140(12):1331-2. doi: 10.1002/ajmg.a.31253. Am J Med Genet A. 2006. PMID: 16688726 No abstract available.

8

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

Chinen Y, Yanagi K, Nakamura S, Nakayama N, Kamiya M, Nakayashiro M, Kaname T, Naritomi K, Nakanishi K. Chinen Y, et al. Among authors: naritomi k. Hum Genome Var. 2020 Apr 16;7:11. doi: 10.1038/s41439-020-0098-y. eCollection 2020. Hum Genome Var. 2020. PMID: 32337051 Free PMC article.

9

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N. Kuniba H, et al. Among authors: naritomi k. J Hum Genet. 2009 May;54(5):304-9. doi: 10.1038/jhg.2009.30. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343044

10

[No title available]

[No authors listed] [No authors listed] PMID: 33420018

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