Associated Papers
Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.
Alayoubi AM et al.
Annals of Medicine, 2025
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.
He Y et al.
Translational Pediatrics, 2021
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S et al.
Molecular Genetics & Genomic Medicine, 2019
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