Thi Tuyet Mai Nguyen
0000-0002-9572-118X
5 papers found
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Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI ‐anchored proteins
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ : Report of seven new subjects and review of the literature
MYSM1 maintains ribosomal protein gene expression in hematopoietic stem cells to prevent hematopoietic dysfunction
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders
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