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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2023 | 1 |
2024 | 4 |
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Page 1
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities.
J Hum Genet. 2024 Feb;69(2):85-90. doi: 10.1038/s10038-023-01209-2. Epub 2023 Nov 30.
J Hum Genet. 2024.
PMID: 38030753
Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A, Kodama K, Okubo Y, Endo W, Inui T, Ikeda M, Katata Y, Togashi N, Ohba C, Imagawa E, Iwama K, Mizuguchi T, Kitami M, Aihara Y, Takayama J, Tamiya G, Kikuchi A, Kure S, Saitsu H, Matsumoto N, Haginoya K.
Kawashima A, et al.
Am J Med Genet A. 2024 May 17:e63656. doi: 10.1002/ajmg.a.63656. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38760879
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
Inoue Y, Tsuchida N, Kim CA, de Oliveira Stephan B, Castro MAA, Honjo RS, Bertola DR, Uchiyama Y, Hamanaka K, Fujita A, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Matsumoto N.
Inoue Y, et al.
J Hum Genet. 2024 Apr;69(3-4):163-167. doi: 10.1038/s10038-024-01219-8. Epub 2024 Jan 17.
J Hum Genet. 2024.
PMID: 38228874
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Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
Koshimizu E, Kato M, Misawa K, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Matsumoto N.
Koshimizu E, et al.
J Hum Genet. 2024 Apr;69(3-4):153-157. doi: 10.1038/s10038-023-01217-2. Epub 2024 Jan 12.
J Hum Genet. 2024.
PMID: 38216729
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