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Results: 1-14 |
Results: 14
Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation
Authors: Wong, LJC
Citation: Ljc. Wong, Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation, GENET MED, 3(6), 2001, pp. 399-404
Molecular genetics of glycogen-storage disease type 1a in Chinese patientsof Taiwan
Authors: Wong, LJC Hwu, WL Dai, P Chen, TJ
Citation: Ljc. Wong et al., Molecular genetics of glycogen-storage disease type 1a in Chinese patientsof Taiwan, MOL GEN MET, 72(2), 2001, pp. 175-180
Improved detection of CFTR mutations in southern California Hispanic CF patients
Authors: Wong, LJC Wang, JJ Zhang, YH Hsu, E Heim, RA Bowman, CM Woo, MS
Citation: Ljc. Wong et al., Improved detection of CFTR mutations in southern California Hispanic CF patients, HUM MUTAT, 18(4), 2001, pp. 296-307
De novo mutation in the mitochondrial tRNA(Leu(UUR)) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
Authors: Ko, CH Lam, CW Tse, PWT Kong, CK Chan, AKH Wong, LJC
Citation: Ch. Ko et al., De novo mutation in the mitochondrial tRNA(Leu(UUR)) gene (A3243G) with rapid segregation resulting in MELAS in the offspring, J PAEDIAT C, 37(1), 2001, pp. 87-90
Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: Report of two families in Taiwan
Authors: Chen, CH Huang, RL Yu, MS Wong, LJC Chao, TF Chu, TY
Citation: Ch. Chen et al., Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: Report of two families in Taiwan, J FORMOS ME, 100(4), 2001, pp. 269-273
Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF
Authors: Wong, LJC Wang, JJ Bowman, CM
Citation: Ljc. Wong et al., Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF, AM J MED G, 102(4), 2001, pp. 389-390
Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome
Authors: Wong, LJC Chen, TJ Dai, P Bird, L Muenke, M
Citation: Ljc. Wong et al., Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome, AM J MED G, 102(3), 2001, pp. 282-285
Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II
Authors: Wong, LJC Dai, P Tan, DJ Lipson, M Grix, A Sifry-Platt, M Gropman, A Chen, TJ
Citation: Ljc. Wong et al., Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II, AM J MED G, 102(1), 2001, pp. 95-99
A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients
Authors: Wang, JJ Bowman, CM Wong, LJC
Citation: Jj. Wang et al., A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients, MOL GEN MET, 70(4), 2000, pp. 316-321
A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family
Authors: Wong, LJC Wang, JJ Woo, M Hsu, E Bowman, CM
Citation: Ljc. Wong et al., A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family, PRENAT DIAG, 20(10), 2000, pp. 807-810
Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome
Authors: Lacbawan, F Tifft, CJ Luban, NLC Schmandt, SM Guerrera, M Weinstein, S Pennybacker, M Wong, LJC
Citation: F. Lacbawan et al., Clinical heterogeneity in mitochondrial DNA deletion disorders: A diagnostic challenge of Pearson syndrome, AM J MED G, 95(3), 2000, pp. 266-268
A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients
Authors: Wang, JJ Bowman, MC Hsu, E Wertz, K Wong, LJC
Citation: Jj. Wang et al., A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients, J MED GENET, 37(3), 2000, pp. 215-218
Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis
Authors: Chen, TJ Boles, RG Wong, LJC
Citation: Tj. Chen et al., Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis, CLIN CHEM, 45(8), 1999, pp. 1162-1167
Novel nucleotide substitutions in mitochondrial DNA
Authors: Liang, MH Wong, LJC
Citation: Mh. Liang et Ljc. Wong, Novel nucleotide substitutions in mitochondrial DNA, J INH MET D, 21(8), 1998, pp. 871-873
Risultati: 1-14 |