Lock Hock Ngu

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 219 citations

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 207 citations · Full text

X-linked Joubert Syndrome, Mendelian Disorder, Genetic Disorder +9

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Adriana M. Montaño, Lock Hock Ngu, Robert D. Steiner et al. · Journal of Medical Genetics · 2016 · 162 citations · Full text

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the <i>PEX16</i> gene

Merel S. Ebberink, W.K. Chong, S. Denis et al. · Journal of Medical Genetics · 2010 · 91 citations · Full text

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 72 citations · Full text