237 results on '"Hsiao, Kwang-Jen"'
Search Results
2. Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency
3. Long-term neurodevelopmental outcomes of significant neonatal jaundice in Taiwan from 2000–2003: a nationwide, population-based cohort study
4. Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
5. Comparing Strategies for Critical Congenital Heart Disease Newborn Screening
6. Inherited metabolic disorders: Quality management for laboratory diagnosis
7. Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients
8. The universal newborn hearing screening program of Taipei City
9. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan
10. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
11. Molecular Epidemiology of Severe Acute Respiratory Syndrome-Associated Coronavirus Infections in Taiwan
12. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
13. Novel Mutations of the OPA1 Gene in Chinese Dominant Optic Atrophy
14. Growth Hormone Therapy in Neonatal Patients With Methylmalonic Acidemia
15. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
16. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
17. Antibody reactivity to HIV-1 Vpu in HIV-1/AIDS patients on highly active antiretroviral therapy
18. Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13
19. Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene
20. A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria
21. Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
22. Long-term Follow-up of Taiwanese Chinese Patients Treated Early for 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
23. Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency
24. α-Galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
25. Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens
26. Type II Collagen Gene Variants and Inherited Osteonecrosis of the Femoral Head
27. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
28. Identification of a missense phenylketonuria mutation at codon 408 in Chinese
29. A Novel Mutation (c. 1072_1074delGAG) in the α-Galactosidase Gene of a Taiwanese Family with Fabry Disease
30. Chromosomal and biochemical screening on mentally retarded school children in Taiwan
31. Detection of Kaposi sarcoma-associated herpesvirus in bone marrow biopsy samples from patients with multiple myeloma
32. Systematic Mutation Analysis of the Catechol O-Methyltransferase Gene as a Candidate Gene for Schizophrenia
33. Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene
34. Prediction of functional consequences of the five newly discovered G6PD variations in Taiwan
35. Tetrahydrobiopterin deficient phenylketonuria detected by neonatal screening in Taiwan
36. Construction and characterization of an expressed sequenced tag library for the mosquito vector Armigeres subalbatus
37. Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians
38. Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese
39. Outcomes of neonatal jaundice in Taiwan
40. Towards metabolic sink therapy for mut methylmalonic acidaemia: Retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia
41. A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, 'Osaka,' in Asians
42. Development of a Newborn Screening Program for Critical Congenital Heart Disease (CCHD) in Taipei
43. Study of restriction fragment length polymorphisms at the human phenylalamine hydroxylase locus and evaluation of its potential application in prenatal diagnosis of phenylketonuria in Chinese
44. Screening for inherited metabolic diseases and congenital hypothyroidism in 4,744 mentally retarded school children in Taiwan
45. Determination of PseudoCholinesterase Activity by an Enzyme Coupling Method in the Serum of Patients with Liver Disease
46. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population
47. Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions
48. Proteomics Characterization of Cytoplasmic and Lipid-Associated Membrane Proteins of Human Pathogen Mycoplasma fermentans M64
49. Complexity of the Mycoplasma fermentans M64 Genome and Metabolic Essentiality and Diversity among Mycoplasmas
50. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
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