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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 3 |
2022 | 5 |
2024 | 0 |
Search Results
5 results
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Page 1
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
NPJ Genom Med. 2022 Oct 26;7(1):62. doi: 10.1038/s41525-022-00331-y.
NPJ Genom Med. 2022.
PMID: 36289212
Free PMC article.
The ATRX splicing variant c.21-1G>A is asymptomatic.
Kojima K, Wada T, Shimbo H, Ikeda T, Jimbo EF, Saitsu H, Matsumoto N, Yamagata T.
Kojima K, et al.
Hum Genome Var. 2022 Sep 14;9(1):33. doi: 10.1038/s41439-022-00212-x.
Hum Genome Var. 2022.
PMID: 36104326
Free PMC article.
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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.
Seyama R, Tsuchida N, Okada Y, Sakata S, Hamada K, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Makino S, Itakura A, Okada S, Okamoto N, Ogata K, Uchiyama Y, Matsumoto N.
Seyama R, et al.
J Hum Genet. 2022 Mar;67(3):157-164. doi: 10.1038/s10038-021-00986-y. Epub 2021 Nov 1.
J Hum Genet. 2022.
PMID: 34719681
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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
Kameyama S, Mizuguchi T, Fukuda H, Moey LH, Keng WT, Okamoto N, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Miyatake S, Matsumoto N.
Kameyama S, et al.
J Hum Genet. 2022 Mar;67(3):169-173. doi: 10.1038/s10038-021-00978-y. Epub 2021 Sep 17.
J Hum Genet. 2022.
PMID: 34531528
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Novel CLTC variants cause new brain and kidney phenotypes.
Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Mizuguchi T, Matsumoto N.
Itai T, et al.
J Hum Genet. 2022 Jan;67(1):1-7. doi: 10.1038/s10038-021-00957-3. Epub 2021 Jul 7.
J Hum Genet. 2022.
PMID: 34230591
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