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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 3 |
2024 | 0 |
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4 results
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Page 1
[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].
Zhonghua Er Ke Za Zhi. 2023 Apr 2;61(4):345-350. doi: 10.3760/cma.j.cn112140-20220922-00827.
Zhonghua Er Ke Za Zhi. 2023.
PMID: 37011981
Chinese.
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.
Liu YD, Huang SS, Li M, Lek M, Song DY, Tan DD, Chen XY, Zhang H, Liu JY, Chang XZ, Xiong H.
Liu YD, et al.
Clin Genet. 2022 Apr;101(4):448-453. doi: 10.1111/cge.14108. Epub 2022 Jan 25.
Clin Genet. 2022.
PMID: 34988992
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[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
Yang CJ, Wang S, Tan DD, Liu YD, Fan YB, Wei CJ, Song DY, Zhu Y, Xiong H.
Yang CJ, et al.
Zhonghua Er Ke Za Zhi. 2023 Feb 2;61(2):154-158. doi: 10.3760/cma.j.cn112140-20220714-00646.
Zhonghua Er Ke Za Zhi. 2023.
PMID: 36720598
Chinese.
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Reply to: "THAP11 CAG Expansion Beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank".
Wei C, Chen Z, Tan D, Jiang H, Zhong N, Xiong H.
Wei C, et al.
Mov Disord. 2023 Dec;38(12):2322-2323. doi: 10.1002/mds.29639.
Mov Disord. 2023.
PMID: 38113318
No abstract available.
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