Associated Papers
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
40567897 (PubMed )
Supplement: Supplementaryfile1.xls › Sheet1
Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
Peng Y et al.
Bmc Medical Genomics, 2023
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.
Lu Q et al.
Annals of Translational Medicine, 2020
[Exome sequencing in the research of genetic eye diseases].
Zhou X et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2015
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