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International Journal of Neonatal Screening|November 25, 2024
DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant IdentifiedTsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, et al.NPJ Genomic Medicine|May 3, 2025
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysisMartin Man-Chun Chui, Anna Ka-Yee Kwong, Hiu Yu Cherie Leung, et al.International Journal of Neonatal Screening|March 27, 2024
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of MetabolismToby Chun Hei Chan, Chloe Miu Mak, Matthew Chun Wing Yeung, et al.Archives of Disease in Childhood|December 2, 2023
Importance of parental involvement in paediatric palliative care in Hong Kong: qualitative case studyFrances Kam Yuet Wong, Jacqueline Mei Chi Ho, Tsz Chui Lai, et al.Epilepsia Open|March 15, 2019
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsyMandy Ho-Yin Tsang, Gordon Ka-Chun Leung, Alvin Chi-Chung Ho, et al.Journal of Neuro-Oncology|November 22, 2018
Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivorsWinnie Wan Yee Tso, Anthony Pak Yin Liu, Tatia Mei Chun Lee, et al.Journal of Inherited Metabolic Disease|June 10, 2016
International Paediatric Mitochondrial Disease ScaleSaskia Koene, Jan C M Hendriks, Ilse Dirks, et al.Journal of Inherited Metabolic Disease|March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyNatalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|June 23, 2021
Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence areaTsz-Ki Ling, Ka-Chung Wong, Candace Yim Chan, et al.Epilepsia|October 22, 2019
The epileptology of GNB5 encephalopathyGemma Poke, Chontelle King, Alison Muir, et al.Pageof 7