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醫學院附設醫院
附設醫院基因醫學部
--期刊論文
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Determination of Smni/Smn2 Gene Dos...
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Date
Title
Authors
2007
Recent Developments in Neurofibromatosis Type 1
李銘仁
;
LEE, MING-JEN
2007
Characterization of a Familial Case with Primary Erythromelalgia from Taiwan
李銘仁
;
余幸司
;
謝松蒼
;
呂建榮
;
楊智超
;
LEE, MING-JEN
;
YU, HSIN-SU
;
HSIEH, SUNG-TSANG
;
LU, CHIEN-JUNG
;
YANG, CHIH-CHAO
2007
Unequal Crossover Recombination - Population Screening for Phox2b Gene Polyalanine Polymorphism Using Ce
洪加政
;
蘇怡寧
;
曹伯年
;
陳保中
;
林秀娟
;
林姃慧
;
穆淑琪
;
劉倢安
;
張瑛昭
;
林文澧
;
謝武勳
;
許世明
;
HUNG, CHIA-CHENG
;
SU, YI-NING
;
TSAO, PO-NIEN
;
CHEN, PAU-CHUNG
;
LIN, SHIO-JEAN
;
LIN, CHENG-HUI
;
MU, SHU-CHI
;
LIU, CHIEH-AN
;
CHANG, YING-CHAO
;
LIN, WIN-LI
;
HSIEH, WU-SHIUN
;
HSU, SU-MING
2007
Acute Intermittent Porphyria with Peripheral Neuropathy: A Follow-up Study after Hematin Treatment
郭弘周
;
李銘仁
;
莊雯莉
;
黃錦章
;
KUO, HUNG-CHOU
;
LEE, MING-JEN
;
CHUANG, WEN-LI
;
HUANG, CHIN-CHANG
2007
Genetic Counseling of Prenatally Detected Unbalancedt(Y;15)(Q12;P13)
陳持平
;
蘇怡寧
;
李貞姬
;
王偉信
;
CHEN, CHIH-PING
;
SU, YI-NING
;
LEE, CHEN-CHI
;
WANG,WAYSEEN
2007
Comparison of Rt-Pcr and a Dual Color Breakapart DNA Fish Probe for Clinical Diagnosis of Synovial Sarcoma in Formalin-Fixed Paraffin-Embedded Tissues: A Preliminary Report
曾麗慧
;
TSENG, LI-HUI
2007
Ldlr and Apob Are Major Genetic Causes of Autosomal Dominant Hypercholesterolemia in a Taiwanese Population
楊鎧鍵
;
蘇怡寧
;
許金玉
;
曾維功
;
吳造中
;
李源德
;
YANG, KAI-CHIEN
;
SU, YI-NING
;
SHEW, JIN-YUH
;
TSENG, WEI-KUNG
;
WU, CHAU-CHUNG
;
LEE, YUAN-THE
2007
Psychiatric Comorbidity and Gender Difference among Treatment-Seeking Heroin Abusers in Taiwan
蔣書娟
;
詹宏裕
;
張元穎
;
孫效儒
;
陳為堅
;
陳志根
;
CHIANG, SHU-CHUAN
;
CHAN, HUNG-YU
;
CHANG, YUAN-YING
;
SUN, HSIAO-JU
;
CHEN, WEI-JANE
;
CHEN, CHIH-KEN
2007
Valproic Acid Treatment in Six Patients with Spinal Muscular Atrophy
蔡力凱
;
楊智超
;
胡務亮
;
李鴻
;
TSAI, LI-KAI
;
YANG, CHIH-CHAO
;
HWU, WUH-LIANG
;
LI, HUNG
2007
Deconstructing Pompe Disease by Analyzing Single Muscle Fibers
簡穎秀
;
CHIEN, YIN-HSIU
2007
Treatment of Niemann-Pick Disease Type C in Two Children with Miglustat: Initial Responses and Maintenance of Effects over 1 Year
簡穎秀
;
李妮鍾
;
蔡力凱
;
黃愛珠
;
彭信逢
;
陳世杰
;
胡務亮
;
CHIEN, YIN-HSIU
;
LEE, NI-CHUNG
;
TSAI, LI-KAI
;
HUANG, AI-CHU
;
PENG, SHINN-FORNG
;
CHEN, SHYH-JYE
;
HWU, WUH-LIANG
2007
The Genetics of Atopic Dermatitis
簡穎秀
;
胡務亮
;
江伯倫
;
CHIEN, YIN-HSIU
;
HWU, WUH-LIANG
;
CHIANG, BOR-LUEN
2006
Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy
簡穎秀
;
李妮鍾
;
彭信逢
;
胡務亮
;
CHIEN, YIN-HSIU
;
LEE, NI-CHUNG
;
PENG, SHINN-FORNG
;
HWU, WUH-LIANG
2006
Rapid Genetic Analysis of Oculocutaneous Albinism (Oca1) Using Denaturing High Performance Liquid Chromatography (Dhplc) System
林芯
;
簡淑錦
;
蘇怡寧
;
李建南
;
陳持平
;
LIN, SHIN-YU
;
CHIEN, SHU-CHIN
;
SU, YI-NING
;
LEE, CHIEN-NAN
;
CHEN, CHIH-PING
2006
De Novo Mutation in the Btk Gene of Atypical X-Linked Agammaglobulinemia in a Patient with Recurrent Pyoderma
林茂才
;
簡穎秀
;
徐世達
;
黃立心
;
姜義祺
;
溫大慶
;
梁佩瑄
;
楊懷智
;
LIN, MAO-TSAIR
;
CHIEN, YIN-HSIU
;
SHYUR, SHYH-DAR
;
HUANG, LI-HSIN
;
CHIANG, YI-CHI
;
WEN, DA-CHIN
;
LIANG, PEI-HSUAN
;
YANG, HWAI-CHIH
2006
A Cloverleaf Skull Associated with Crouzon Syndrome
陳持平
;
林炫沛
;
蘇怡寧
;
王偉信
;
CHEN, CHIH-PING
;
LIN, SHUAN-PEI
;
SU, YI-NING
;
WANG, WAYSEEN
2006
Favourable Outcome in a Pregnancy with Concomitant Maternal and Fetal Osteogenesis Imperfecta Associated with a Novel Col1a2 Mutation
陳持平
;
蘇怡寧
;
林炫沛
;
林美玲
;
王偉信
;
CHEN, CHIH-PING
;
SU, YI-NING
;
LIN, SHUAN-PEI
;
LIN, MEI-LING
;
WANG, WAYSEEN
2006
Correlation of Interieukin-10 Gene Haplotype with Hepatocellular Carcinoma in Taiwan
曾麗慧
;
林敏哲
;
邵文逸
;
張峰義
;
簡國龍
;
陳定信
;
陳培哲
;
TSENG, LI-HUI
;
LIN, MING-TSEH
;
SHAU, WEN-YI
;
CHANG, FENG-YI
;
CHIEN, KUO-LIONG
;
CHEN, DING-SHINN
;
CHEN, PEI-JER
2006
Heroin Use among Youths Incarcerated for Illicit Drug Use: Psychosocial Environment, Substance Use History, Psychiatric Comorbidity, and Route of Administration
蔣書娟
;
陳紹基
;
孫效儒
;
詹宏裕
;
陳為堅
;
CHIANG, SHU-CHUAN
;
CHEN, SHAW-JI
;
SUN, HSIAO-JU
;
CHAN, HUNG-YU
;
CHEN, WEI-JANE
2006
Recidivism among Male Subjects Incarcerated for Illicit Drug Use in Taiwan
蔣書娟
;
詹宏裕
;
陳炯旭
;
孫效儒
;
張宏俊
;
陳為堅
;
林式榖
;
陳志根
;
CHIANG, SHU-CHUAN
;
CHAN, HUNG-YU
;
CHEN, CHONG-SHU
;
SUN, HSIAO-JU
;
CHANG, HUNG-JUNG
;
CHEN, WEI-JANE
;
LIN, SHIH-KU
;
CHEN, CHIH-KEN
2006
Establishing a Standardized Therapeutic Testing Protocol for Spinal Muscular Atrophy
蔡力凱
;
蔡明勳
;
林則彬
;
胡務亮
;
李鴻
;
TSAI, LI-KAI
;
TSAI, MING-SHIUN
;
LIN, TZER-BIN
;
HWU, WUH-LIANG
;
LI, HUNG
2006
Prenatal Two- and Three-Dimensional Ultrasound Diagnosis of Limb Reduction Defects Associated with Homozygous Alpha-Thalassemia
蘇怡寧
;
SU, YI-NING
2006
Determination of Smni/Smn2 Gene Dosage by a Quantitative Genotyping Platform Combining Capillary Electrophoresis and Maldi-Tof Mass Spectrometry
蘇怡寧
;
廖信凱
;
陳玉如
;
SU, YI-NING
;
LIAO, HSIN-KAI
;
CHEN, YU-JU
2005
Spectrum of hypermethioninemia in neonatal screening
Chien, Yin-Hsiu
;
Chiang, Shu-Chuan
;
Huang, Aichu
;
Hwu, Wuh-Liang
2005
Spectrum of Hypermethioninemia in Neonatal Screening
簡穎秀
;
蔣書娟
;
胡務亮
;
CHIEN, YIN-HSIU
;
CHIANG, SHU-CHUAN
;
HWU, WUH-LIANG
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