Lack of meaningful genotype-phenotype association in SCN1A-related infantile-onset epileptic encephalopathies
พ.ศ. 2560
Case series of three Filipino siblings diagnosed with thomsen disease with T310M missense mutation
พ.ศ. 2563
Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report
พ.ศ. 2559
Hereditary spastic paraplegia with SPG30 mutation: A report from North East China
พ.ศ. 2560
Marked hemiatrophy caused by a nonsense mutation of the dystrophin gene in a female patient of duchenne muscular dystrophy
พ.ศ. 2563
SEQUENCE CHARACTERIZATION AND POLYMORPHISM DETECTION IN THE BUBALINE CD14 GENE
พ.ศ. 2556
Congenital muscular dystrophy due to laminin ?2 (merosin) deficiency (MDC1A) in an ethnic Malay girl
Universiti Malaya พ.ศ. 2560
Inherited anti-thrombin deficiency in a malay-malaysian family: A missense mutation at nucleotide g.13267C>A aka anti-thrombin budapest 5 (p.pro439thr) of the SERPINC 1 gene
Universiti Islam Antarabangsa Malaysia พ.ศ. 2557
A "near miss" congenital eventration of the right hemidiaphragm in a neonate: A case report
พ.ศ. 2559
A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome