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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 1 |
2020 | 2 |
2021 | 3 |
2022 | 2 |
2023 | 2 |
2024 | 0 |
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Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review.
Mol Genet Genomics. 2023 May;298(3):603-614. doi: 10.1007/s00438-023-02002-8. Epub 2023 Mar 11.
Mol Genet Genomics. 2023.
PMID: 36906724
Review.
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
Li L, Ma J, Wang J, Dong L, Liu S.
Li L, et al.
Eur J Med Res. 2022 Sep 26;27(1):184. doi: 10.1186/s40001-022-00808-7.
Eur J Med Res. 2022.
PMID: 36155627
Free PMC article.
Item in Clipboard
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L, Li X, Wang X, Han M, Zhao D, Wang F, Liu S.
Li L, et al.
Endocrine. 2023 Jan;79(1):125-134. doi: 10.1007/s12020-022-03188-4. Epub 2022 Sep 20.
Endocrine. 2023.
PMID: 36125728
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The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.
Dong L, Li L, Zhang X, Xu X, Han M, Liu S.
Dong L, et al.
Int J Dev Neurosci. 2021 Dec;81(8):706-716. doi: 10.1002/jdn.10147. Epub 2021 Sep 2.
Int J Dev Neurosci. 2021.
PMID: 34405433
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Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C, Sun Z, Xu L, Che F, Liu S.
Zhang C, et al.
Int J Dev Neurosci. 2021 Oct;81(6):529-538. doi: 10.1002/jdn.10135. Epub 2021 Jun 25.
Int J Dev Neurosci. 2021.
PMID: 34091942
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Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L, Liu W, Zhang L, Wang F, Wang F, Gu M, Wang X, Liu S.
Li L, et al.
Endocrine. 2021 Apr;72(1):147-156. doi: 10.1007/s12020-020-02437-8. Epub 2020 Aug 15.
Endocrine. 2021.
PMID: 32803677
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Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.
Wang F, Guan H, Liu W, Zhao G, Liu S.
Wang F, et al.
J Clin Lab Anal. 2020 Jan;34(1):e23012. doi: 10.1002/jcla.23012. Epub 2019 Sep 8.
J Clin Lab Anal. 2020.
PMID: 31495972
Free PMC article.
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