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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2021 | 5 |
2024 | 0 |
Search Results
6 results
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Page 1
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet. 2021 Jul;140(7):1109-1120. doi: 10.1007/s00439-021-02283-2. Epub 2021 May 4.
Hum Genet. 2021.
PMID: 33944996
Free PMC article.
Cerebrovascular diseases in two patients with entire NSD1 deletion.
Itai T, Miyatake S, Hatano T, Hattori N, Ohno A, Aoki Y, Itomi K, Mori H, Saitsu H, Matsumoto N.
Itai T, et al.
Hum Genome Var. 2021 May 24;8(1):20. doi: 10.1038/s41439-021-00151-z.
Hum Genome Var. 2021.
PMID: 34031356
Free PMC article.
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Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L.
Xue JY, et al.
J Hum Genet. 2021 Jun;66(6):607-611. doi: 10.1038/s10038-020-00891-w. Epub 2021 Jan 6.
J Hum Genet. 2021.
PMID: 33402699
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Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N.
Hiromoto Y, et al.
Hum Genome Var. 2020 Dec 3;7(1):43. doi: 10.1038/s41439-020-00131-9.
Hum Genome Var. 2020.
PMID: 33298907
Free PMC article.
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The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S, Guo L.
Xue JY, et al.
J Hum Genet. 2021 Apr;66(4):371-377. doi: 10.1038/s10038-020-00831-8. Epub 2020 Oct 9.
J Hum Genet. 2021.
PMID: 33037392
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Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.
Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N.
Ohori S, et al.
J Hum Genet. 2021 Jul;66(7):697-705. doi: 10.1038/s10038-020-00893-8. Epub 2021 Jan 29.
J Hum Genet. 2021.
PMID: 33510365
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