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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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2019 | 1 |
2022 | 2 |
2024 | 0 |
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Page 1
Variegation of autism related traits across seven neurogenetic disorders.
Transl Psychiatry. 2022 Apr 7;12(1):149. doi: 10.1038/s41398-022-01895-0.
Transl Psychiatry. 2022.
PMID: 35393403
Free PMC article.
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Han ST, Kim AC, Garcia K, Schimmenti LA, Macnamara E, Network UD, Gahl WA, Malicdan MC, Tifft CJ.
Han ST, et al.
Mol Genet Metab. 2022 Mar;135(3):221-229. doi: 10.1016/j.ymgme.2022.01.103. Epub 2022 Feb 1.
Mol Genet Metab. 2022.
PMID: 35144859
Free PMC article.
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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F, Wu A, Gordon MG, Vlahos L, Macnamara S, Burke E, Malicdan MC, Adams DR, Tifft CJ, Toro C, Gahl WA, Markello TC.
Gu F, et al.
Genet Med. 2019 Aug;21(8):1772-1780. doi: 10.1038/s41436-019-0434-0. Epub 2019 Jan 31.
Genet Med. 2019.
PMID: 30700791
Free PMC article.
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