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机构 日期 题名 作者
國立臺灣大學 2007-07 Molecular assay of -alpha(3.7) and -alpha(4.2) deletions causing alpha-thalassemia by denaturing high-performance liquid chromatography Hung, CC; Lee, CN; Chen, CP; Jong, YJ; Hsieh, WS; Lin, WL; Su, YN; Hsu, SM
國立臺灣大學 2007-06 Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis Chang, MC; Chang, YT; Wei, SC; Tien, YW; Liang, PC; Jan, IS; Su, YN; Wong, JM
國立臺灣大學 2007-05 Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene Tseng, YR; Su, YN; Lu, FL; Jeng, SF; Hsieh, WS; Chen, CY; Chou, HC; Peng, SS
國立臺灣大學 2007-05 Perinatal and infant health outcomes among neonates born to aboriginal parents in Taiwan Chang, YH; Chen, PC; Hsieh, CJ; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Chou, HC; Lin, YP; Hsieh, WS
國立臺灣大學 2007-02 Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. J Pediatr Surg Ou-Yang, MC; Yang, SN; Hsu, YM; Ou-Yang, MH; Haung, HC; Lee. SY; Hsieh, WS; Su, YN; Liu,CA
國立臺灣大學 2007-01 Perinatal and Infant Health Outcomes among Neonates Born to Aboriginal Parents in Taiwan Chang, YH; Chen, PC; Hsieh, CJ; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Chou, HC; Lin, YP; Hsieh, WS
國立臺灣大學 2007-01 Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant Chen, LR; Tsao, PN; Su, YN; Fan, PC; Chou, HC; Chen, CY; Chang, YH; Hsieh, WS
國立臺灣大學 2007 台灣原住民新生兒的周產期與嬰兒期健康預後之探討 張宇勳; 陳保中; 謝佳容; 鄭素芳; 廖華芳; 蘇怡寧; 林秀娟; 周弘傑; 林宜平; 謝武勳; Chang, YH; Chen, PC; Hsieh, CJ; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Chou, HC; Lin, YP; Hsieh, WS
國立臺灣大學 2007 Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene  Tseng, YR; Su, YN; Lu, LF; Jeng, SF; Chen, CY; Chou, HC; Tsao, PN; Hsieh, WS.
國立臺灣大學 2007 Favorable neonatal outcomes among live births to unique marriage-based immigrant mothers in Taiwan.  Hsieh, WS; Hsieh, CJ; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Chen, PC
國立臺灣大學 2007 Genetic counseling of prenatally detected unbalanced t(Y;15)(q12;p13) Chen, CP; Su, YN; Lin, CC; Li, YC; Hsieh, LJ; Lee, CC; Wang, W
國立臺灣大學 2006-12 Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in Prader-Willi syndrome and Duchenne muscular dystrophy Hung, CC; Chen, CP; Lin, SP; Chien, SC; Lee, CN; Cheng, WF; Hsieh, WS; Liu, MS; Su, YN; Lin, WL
國立臺灣大學 2006-11 Serum mesothelin in epithelial ovarian carcinoma: a new screening marker and prognostic factor. Huang, CY; Cheng, WF; Lee, CN; Su, YN; Chien, SC; Tzeng, YL; Hsieh, CY; Chen, CA
國立臺灣大學 2006-09 Sindbis vrus replicon particles encoding calreticulin linked to a tumor antigen generate long-term tumor-specific immunity. Cheng, WF; Lee, CN; SU, YN; Chai, CY; Chang, MC; Polo, JM; Hung, CF; Wu, TC; Hsieh, CY; Chen, CA
國立臺灣大學 2006-09 Perinatal Toxoplasmosis, northern Taiwan. Emergency of Infectious Disease Hu, IJ; Chen, PC; Su, FC; Hsieh, CJ; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Hsieh, WS
國立臺灣大學 2006-09 Molecular and clinical analyses of 84 patients with tuberous sclerosis complex Hung, CC; Su, YN; Chien, SC; Liou, HH; Chen, CC; Chen, PC; Hsieh, CJ; Chen, CP; Lee, WT; Lin, WL; Lee, CN
國立臺灣大學 2006-09 Nationwide singleton birth weight percentiles by gestational age in Taiwan, 1998-2002. Hsieh, WS; Wu, HC; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Hsieh, CJ; Chen, PC.
國立臺灣大學 2006-08 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type Lee, MJ; Su, YN; You, HL; Chiou, SC; Lin, LC; Yang, CC; Lee, WC; Hwu, WL; Hsieh, FJ; Stephenson, DA; Yu, CL
國立臺灣大學 2006-07 Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis Chen, CP; Su, YN; Hung, CC; Shih, JC; Wang, W
國立臺灣大學 2006-05 Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system Lin, SY; Chien, SC; Su, YN; Lee, CN; Chen, CP
國家衛生研究院 2006-04 Association between GAD67 genotypes and smoking in schizophrenic patients Lan, TH;Loh, EW;Chiu, HJ;Su, YN;Hu, TM
國立臺灣大學 2006-04 A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. Lin, CY; Su, YN; Lee, CN; Hung, CC; Cheng, WF; Lin, WL; Chen, CA; Hsieh, ST
國立臺灣大學 2006-04 Nationwide singleton birth weight percentiles by gestational age in Taiwan, 1998-2002 Hsieh, WS; Wu, HC; Jeng, SF; Liao, HF; Su, YN; Lin, SJ; Hsieh, CJ; Chen, PC
國立臺灣大學 2006-03 Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry Kao, HY; Su, YN; Liao, HK; Liu, MS; Chen, YJ
國立臺灣大學 2006-03 A cloverleaf skull associated with Crouzon syndrome. Arch Dis Child Fetal Neonatal Ed Chen, CP; Lin, SP; Su, YN; Huang, JK; Wang, W

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