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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 6 |
2024 | 2 |
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7 results
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Page 1
Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants.
Hum Genome Var. 2024 Mar 28;11(1):16. doi: 10.1038/s41439-024-00274-z.
Hum Genome Var. 2024.
PMID: 38548746
Free PMC article.
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders.
Utsuno Y, Hamada K, Hamanaka K, Miyoshi K, Tsuchimoto K, Sunada S, Itai T, Sakamoto M, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Miyatake S, Misawa K, Mizuguchi T, Kato Y, Saito K, Ogata K, Matsumoto N.
Utsuno Y, et al.
J Hum Genet. 2024 Feb;69(2):69-77. doi: 10.1038/s10038-023-01206-5. Epub 2023 Nov 27.
J Hum Genet. 2024.
PMID: 38012394
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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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Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
Fukuda H, Mizuguchi T, Doi H, Kameyama S, Kunii M, Joki H, Takahashi T, Komiya H, Sasaki M, Miyaji Y, Ohori S, Koshimizu E, Uchiyama Y, Tsuchida N, Fujita A, Hamanaka K, Misawa K, Miyatake S, Tanaka F, Matsumoto N.
Fukuda H, et al.
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
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Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N.
Miyake N, et al.
Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 36973392
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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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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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