Hui Bein Chew

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen Oliver, Eon Joo Park et al. · The American Journal of Human Genetics · 2021 · 86 citations · Full text

Medicine, Genetics, Neurology +17

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De novo variants in <i>CELF2</i> that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

Toshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki et al. · Human Mutation · 2020 · 36 citations

Life Sciences, Genetics, Molecular Genetics +17

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

Hui Bein Chew, Lock Hock Ngu, Md Yunus Zabedah et al. · Journal of Inherited Metabolic Disease · 2010 · 24 citations

Medicine, Pathology, Pediatrics +15

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew et al. · Orphanet Journal of Rare Diseases · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15