A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review

Advances in molecular genetic research on Myelodysplastic syndrome

Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies

Genetic analysis and reproductive intervention for 46 Chinese pedigrees affected with Hereditary multiple exostoses

Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus

Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors

A fetus with Neurodevelopmental disorders with deformed facial features and distal skeletal abnormalities due to a rare variant of ZMIZ1 gene and literature review

Advances in molecular genetic research on Myelodysplastic syndrome

Implication of newborn Short-chain Acyl-CoA dehydrogenase deficiency screening and follow-up in Hainan Province for newborn screening strategies

Genetic analysis and reproductive intervention for 46 Chinese pedigrees affected with Hereditary multiple exostoses

Genetic analysis of a de novo EFTUD2 variant causing Mandibulofacial dysostosis with microcephaly in a fetus

Incidental findings from cell-free fetal DNA-based non-invasive prenatal testing: Research progress on maternal tumors