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36,791 results

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Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu F, Li R, Yu Q, Wang D, Deng Q, Li L, Lei T, Chen G, Nie Z, Yang X, Han J, Pan M, Zhen L, Zhang Y, Jing X, Li F, Li F, Zhang L, Yi C, Li Y, Lu Y, Zhou H, Cheng K, Li J, Xiang L, Zhang J, Tang S, Fang P, Li D, Liao C. Fu F, et al. Among authors: li f, li d, li y, li j, li l, li r. Genome Med. 2022 Oct 28;14(1):123. doi: 10.1186/s13073-022-01130-x. Genome Med. 2022. PMID: 36307859 Free PMC article.
[Genetic diagnosis of microcephaly].
Liao XF, Liao BJ, Tan WH, Wang L, Wang DD, Tang EF, Li FG, Pan XF, Ji LH, She Q. Liao XF, et al. Among authors: li fg. Zhonghua Fu Chan Ke Za Zhi. 2023 Mar 25;58(3):178-184. doi: 10.3760/cma.j.cn112141-20221102-00675. Zhonghua Fu Chan Ke Za Zhi. 2023. PMID: 36935194 Chinese.
Exome sequencing improves genetic diagnosis of congenital orofacial clefts.
Yan S, Fu F, Li R, Yu Q, Li F, Zhou H, Wang Y, Huang R, Ma C, Guo F, Wang D, Yang X, Han J, Lei T, Li D, Liao C. Yan S, et al. Among authors: li f, li d, li r. Front Genet. 2023 Sep 7;14:1252823. doi: 10.3389/fgene.2023.1252823. eCollection 2023. Front Genet. 2023. PMID: 37745857 Free PMC article.
PDIA2 variant associated with vitiligo.
Li F, Liao C, Li R, Zhang Y, Jing X, Li D, Deng W. Li F, et al. Among authors: li d, li r. Skin Health Dis. 2023 Aug 16;3(5):e278. doi: 10.1002/ski2.278. eCollection 2023 Oct. Skin Health Dis. 2023. PMID: 37799362 Free PMC article.
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants, and genotype-phenotype correlations.
Huang R, Fu F, Guo F, Zhou H, Yu Q, Yan S, Liu L, Lu J, Ma C, Wang Y, Chen H, Wang D, Zhang Y, Jing X, Li F, Han J, Li D, Li R, Liao C. Huang R, et al. Among authors: li f, li d, li r. Am J Obstet Gynecol MFM. 2024 Jan;6(1):101228. doi: 10.1016/j.ajogmf.2023.101228. Epub 2023 Nov 18. Am J Obstet Gynecol MFM. 2024. PMID: 37984685 Review.
Prenatal diagnosis and outcomes in fetuses with duplex kidney.
Ma C, Huang R, Fu F, Zhou H, Wang Y, Yan S, Guo F, Chen H, Li L, Jing X, Li F, Han J, Li D, Li R, Liao C. Ma C, et al. Among authors: li f, li d, li l, li r. Int J Gynaecol Obstet. 2024 Jan 8. doi: 10.1002/ijgo.15344. Online ahead of print. Int J Gynaecol Obstet. 2024. PMID: 38189110
36,791 results
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