742 results on '"Lam, Ching Wan"'
Search Results
102. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
103. DPYD genotype-guided dose individualisation of fluoropyrimidine therapy: who and how?
104. A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series
105. A novel DraI polymorphism in the 3′ untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a
106. Glucose-6-phosphatase gene (727G → T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a
107. Novel mutations in the PATCHED gene in basal cell nevus syndrome
108. DNA-Based Diagnosis of Isolated Sulfite Oxidase Deficiency by Denaturing High-Performance Liquid Chromatography
109. Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome
110. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy
111. Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
112. Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
113. Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency
114. Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
115. Postzygotic inactivating mutation of KIF13Alocated at chromosome 6p22.3 in a patient with a novel mosaic neuroectodermal syndrome
116. MECP2 mutation in male patients with non-specific X-linked mental retardation
117. Plasmonic gold nanoparticles as multifaceted probe for tissue imaging
118. Origin of the Japanese Population
119. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
120. Mutational analysis for Wilson's disease
121. Erratum to: Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
122. Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke
123. Thyroid Dysfunction in Relation to Immune Profile, Disease Status, and Outcome in 191 Patients with COVID-19
124. NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome
125. NMR-based urinalysis for beta-ketothiolase deficiency
126. Global developmental delay and intellectual disability associated with a de novo TOP2B mutation
127. Pleural fluid total free fatty acids as cancer biomarkers in malignant pleural effusions: a preliminary study
128. Urine ‘total triglyceride’ for diagnosis of a rare cause of hypoglycemia: a novel, rapid and simple test
129. The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study
130. Ending a 40-year-diagnostic odyssey by clinical whole exome sequencing for a treatable neurological disease
131. Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy
132. Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations
133. Lipid metabolites as potential diagnostic and prognostic biomarkers for acute community acquired pneumonia
134. Novel large deletion in AVPR2 gene causing copy number variation in a patient with X-linked nephrogenic diabetes insipidus
135. Metabolomic Profiling of Plasma from Melioidosis Patients Using UHPLC-QTOF MS Reveals Novel Biomarkers for Diagnosis
136. Genetic diversity of Aspergillus species isolated from onychomycosis and Aspergillus hongkongensis sp. nov., with implications to antifungal susceptibility testing
137. Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong
138. Metabolomic Profiling of Plasma from Patients with Tuberculosis by Use of Untargeted Mass Spectrometry Reveals Novel Biomarkers for Diagnosis
139. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy
140. Abstract B1-18: Integrative analysis of gene expression and metabolism in isocitrate dehydrogenase 1 mutant acute myeloid leukemia and myeloid knock in mouse model
141. Abstract A2-66: Integrative analysis of gene expression and metabolism in isocitrate dehydrogenase 1 mutant acute myeloid leukemia and myeloid knock in mouse model
142. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS
143. Metabolomics Analysis Reveals Specific Novel Tetrapeptide and Potential Anti-Inflammatory Metabolites in Pathogenic Aspergillus species
144. Metabolomic profiling of Burkholderia pseudomallei using UHPLC-ESI-Q-TOF-MS reveals specific biomarkers including 4-methyl-5-thiazoleethanol and unique thiamine degradation pathway
145. Laboratory diagnosis of melioidosis: Past, present and future
146. Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: A cautionary note
147. Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
148. Identifying the disease gene for a new locus of congenital myasthenic syndrome
149. A metabonomic approach for biomarker discovery for diagnosis of malignant pleural effusions (MPE)
150. New lights in light's criteria
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