Murakami H - Search Results

1

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: murakami h. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122

2

Kuroda Y, Murakami H, Yokoi T, Kumaki T, Enomoto Y, Tsurusaki Y, Kurosawa K. Kuroda Y, et al. Among authors: murakami h. Brain Dev. 2019 Jun;41(6):538-541. doi: 10.1016/j.braindev.2019.02.007. Epub 2019 Feb 20. Brain Dev. 2019. PMID: 30795918

3

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Takahashi K, Mitsuzuka K, Ishimoto H, Nishimura G, Kurosawa K. Kuroda Y, et al. Among authors: murakami h. Clin Genet. 2019 Jun;95(6):713-717. doi: 10.1111/cge.13530. Epub 2019 Apr 11. Clin Genet. 2019. PMID: 30847897

4

Discordant phenotype caused by CASK mutation in siblings with NF1.

Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Akahira-Azuma M, Kuroda Y, Tsuji M, Goto T, Kurosawa K. Murakami H, et al. Hum Genome Var. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0. eCollection 2019. Hum Genome Var. 2019. PMID: 31044082 Free PMC article.

5

A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.

Murakami H, Enomoto Y, Tsurusaki Y, Sugio Y, Kurosawa K. Murakami H, et al. Congenit Anom (Kyoto). 2020 May;60(3):91-93. doi: 10.1111/cga.12350. Epub 2019 Jul 29. Congenit Anom (Kyoto). 2020. PMID: 31322785 No abstract available.

6

Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2-q41 encompassing cell division cycle protein 73.

Nishimura N, Murakami H, Saito T, Masuno M, Kurosawa K. Nishimura N, et al. Among authors: murakami h. Congenit Anom (Kyoto). 2020 Jul;60(4):128-130. doi: 10.1111/cga.12356. Epub 2019 Oct 21. Congenit Anom (Kyoto). 2020. PMID: 31595586 No abstract available.

7

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Ikeda A, Yamamoto A, Ichikawa K, Tsuyusaki Y, Tsuji M, Iai M, Enomoto Y, Murakami H, Kurosawa K, Miyatake S, Matsumoto N, Goto T. Ikeda A, et al. Among authors: murakami h. Epilepsy Behav Rep. 2019 Dec 5;13:100349. doi: 10.1016/j.ebr.2019.100349. eCollection 2020. Epilepsy Behav Rep. 2019. PMID: 31879735 Free PMC article.

8

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.

Murakami H, Uehara T, Tsurusaki Y, Enomoto Y, Kuroda Y, Aida N, Kosaki K, Kurosawa K. Murakami H, et al. Brain Dev. 2020 Mar;42(3):289-292. doi: 10.1016/j.braindev.2019.12.008. Epub 2020 Jan 16. Brain Dev. 2020. PMID: 31955925

9

Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

Takizaki N, Tsurusaki Y, Katsumata K, Enomoto Y, Murakami H, Muroya K, Ishikawa H, Aida N, Nishimura G, Kurosawa K. Takizaki N, et al. Among authors: murakami h. Hum Genome Var. 2020 Feb 4;7:1. doi: 10.1038/s41439-020-0090-6. eCollection 2020. Hum Genome Var. 2020. PMID: 32047638 Free PMC article.

10

Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.

Nishimura N, Murakami H, Hayashi T, Sato H, Kurosawa K. Nishimura N, et al. Among authors: murakami h. Congenit Anom (Kyoto). 2020 Sep;60(5):153-155. doi: 10.1111/cga.12371. Epub 2020 Apr 16. Congenit Anom (Kyoto). 2020. PMID: 32277509 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

3,292 results

Search Page

Filters