A. K. Kwong

发表

Title Gene panel analysis for nonsyndromic cryptogenicneonatal / infantile epileptic encephalopathy

C. Fung, A. K. Kwong, 2017 .

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

V. Wong, C. Fung, A. K. Kwong, 2017, Epilepsia open.

The importance of the olfactory rosettes in maintaining pituitary prolactin and prolactin-releasing peptide levels during hyposmotic acclimation in silver sea bream (Sparus sarba).

N. Woo, A. K. Kwong, 2012, Comparative biochemistry and physiology. Part A, Molecular & integrative physiology.

Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.

V. Wong, C. Fung, A. K. Kwong, 2014, Pediatric neurology.

Catalysis-based inhibitors of the calcium signaling function of CD38.

L. Zhang, Q. Hao, Li-He Zhang, 2012, Biochemistry.

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

R. Rodenburg, B. Chung, J. Smeitink, 2020, Human genomics.

Exome sequencing in paediatric patients with movement disorders

M. Lek, R. Rodenburg, S. Pajusalu, 2020, Orphanet Journal of Rare Diseases.

Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

Y. Lau, B. Chung, M. Yu, 2022, Frontiers in Genetics.

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

V. Wong, C. Fung, A. K. Kwong, 2015, Brain and Development.

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

V. Wong, C. Fung, A. K. Kwong, 2015, PloS one.

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

V. Wong, J. Smeitink, C. Fung, 2021, Epilepsia open.

ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood – Potential target of treatment?

V. Wong, A. K. Kwong, 2015, Brain and Development.

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

R. Rodenburg, B. Chung, J. Smeitink, 2019, JIMD reports.

A fatal case of COQ 7-associated primary coenzyme Q 10 deficiency

R. Rodenburg, B. Chung, J. Smeitink, 2019 .

Design, Synthesis and Biological Evaluation of Noncovalent Inhibitors of Human CD38 NADase

L. Zhang, Lihe Zhang, Hongwei Jin, 2012, ChemMedChem.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

Direct actions of cortisol, thyroxine and growth hormone on IGF-I mRNA expression in sea bream hepatocytes.

N. Woo, A. K. Kwong, Angel K. Y. Man, 2008, Comparative biochemistry and physiology. Part A, Molecular & integrative physiology.

Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

K. Y. Chan, A. Kan, B. Chung, 2022, Healthcare.

Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept

Vicente A. Yépez, J. Gagneur, A. Kan, 2022, npj Genomic Medicine.

Studies on the Synthesis of Nicotinamide Nucleoside and Nucleotide Analogues and Their Inhibitions towards CD38 NADase

Zhenjun Yang, Lihe Zhang, L. Zhang, 2011 .

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

V. Wong, C. Fung, A. K. Kwong, 2012, PloS one.

Title Identification of SCN 1 A and PCDH 19 mutations in Chinesechildren with Dravet syndrome

V. Wong, C. Fung, A. K. Kwong, 2012 .

Design, synthesis and biological characterization of novel inhibitors of CD38.

J. Yue, Zhenjun Yang, Q. Hao, 2011, Organic & biomolecular chemistry.

Design, synthesis and biological characterization of novel inhibitors of CD38.

J. Yue, Zhenjun Yang, Q. Hao, 2011, Organic & biomolecular chemistry.

Title Design , synthesis and biological characterization of novelinhibitors of CD 38

J. Yue, Zhenjun Yang, Q. Hao, 2011 .

Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

P. Chow, B. Chung, M. Yu, 2023, Journal of the American Heart Association.

Prolactin-releasing peptide, a possible modulator of prolactin in the euryhaline silver sea bream (Sparus sarba): A molecular study.

N. Woo, A. K. Kwong, 2008, General and comparative endocrinology.

Effect of extracellular osmolality and ionic levels on pituitary prolactin release in euryhaline silver sea bream (Sparus sarba).

N. Woo, A. K. Kwong, Angel K. Y. Man, 2009, General and comparative endocrinology.

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

R. Rodenburg, J. Smeitink, G. C. Chan, 2021, JIMD reports.

Studies of the Synthesis of Nicotinamide Nucleoside and Nucleotide Analogues and Their Inhibitions Towards CD38 NADase.

L. Zhang, Zhenjun Yang, L. Zhang, 2012 .

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

R. Rodenburg, J. Smeitink, C. Fung, 2019, Brain and Development.

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Y. Chien, W. Hwu, R. Rodenburg, 2019, npj Genomic Medicine.

CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report

V. Wong, A. K. Kwong, 2015, Brain and Development.