Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.
Lu X et al.
Frontiers in Pharmacology, 2019
30787879 (PubMed )
Supplement: Data_Sheet_1.PDF
Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.
Barkova E et al.
Clinical Genetics, 2015
[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1].
Li CM et al.
Yi Chuan = Hereditas, 2011
[Genetic analysis of the UGT1A1 gene mutation sites in a Chinese family suffered from Gilbert's syndrome].
Yu LH et al.
Yi Chuan = Hereditas, 2006
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