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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 2 |
2023 | 4 |
2024 | 0 |
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5 results
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Page 1
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet. 2023 Oct;68(10):689-697. doi: 10.1038/s10038-023-01170-0. Epub 2023 Jun 12.
J Hum Genet. 2023.
PMID: 37308565
Distal 2q duplication in a patient with intellectual disability.
Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N.
Suzuki T, et al.
Hum Genome Var. 2022 Nov 10;9(1):39. doi: 10.1038/s41439-022-00215-8.
Hum Genome Var. 2022.
PMID: 36357380
Free PMC article.
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Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R, Uchiyama Y, Kaneshi Y, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Okamoto N, Matsumoto N.
Seyama R, et al.
J Hum Genet. 2023 May;68(5):363-367. doi: 10.1038/s10038-022-01117-x. Epub 2023 Jan 12.
J Hum Genet. 2023.
PMID: 36631501
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Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
Mizuguchi T, Toyota T, Koshimizu E, Kameyama S, Fukuda H, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Misawa K, Miyatake S, Adachi H, Matsumoto N.
Mizuguchi T, et al.
J Hum Genet. 2023 Dec;68(12):875-878. doi: 10.1038/s10038-023-01187-5. Epub 2023 Aug 18.
J Hum Genet. 2023.
PMID: 37592133
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A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8.
Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, Uchiyama Y, Hamanaka K, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Matsumoto N.
Sakamoto M, et al.
J Hum Genet. 2023 Apr;68(4):247-253. doi: 10.1038/s10038-022-01098-x. Epub 2022 Dec 13.
J Hum Genet. 2023.
PMID: 36509868
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