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MeSH:(Cystic Fibrosis/diagnosis/*genetics)

1.Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.

Liru QIU ; Fengjie YANG ; Yonghua HE ; Huiqing YUAN ; Jianhua ZHOU

Frontiers of Medicine 2018;12(5):550-558

3.Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency.

Young June CHOE ; Jae Sung KO ; Jeong Kee SEO ; Jae Jun HAN ; Jung Ok SHIM ; Young Yull KOH ; Ran LEE ; Chang Seok KI ; Jong Won KIM ; Jung Ho KIM

Journal of Korean Medical Science 2010;25(1):163-165

4.Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis.

Jin-rong LIU ; Yun PENG ; Yu-hong ZHAO ; Wei WANG ; Yan GUO ; Jian-xin HE ; Shun-ying ZHAO ; Zai-fang JIANG

Chinese Journal of Pediatrics 2012;50(11):829-833

5.The L441P Mutation of Cystic Fibrosis Transmembrane conductance Regulator and its Molecular Pathogenic Mechanisms in a Korean Patient with Cystic Fibrosis.

Heon Yung GEE ; Chang Keun KIM ; So Won KIM ; Ji Hyun LEE ; Jeong Ho KIM ; Kyung Hwan KIM ; Min Goo LEE

Journal of Korean Medical Science 2010;25(1):166-171

6.Cystic Fibrosis in Korean Children: A Case Report Identified by a Quantitative Pilocarpine Iontophoresis Sweat Test and Genetic Analysis.

Kang Mo AHN ; Hwa Young PARK ; Ji Hyun LEE ; Min Goo LEE ; Jeong Ho KIM ; Im Ju KANG ; Sang Il LEE

Journal of Korean Medical Science 2005;20(1):153-157

7.Standardized Sweat Chloride Analysis for the Diagnosis of Cystic Fibrosis in Korea.

Sue Jung KIM ; Mingoo LEE ; Seung Ick CHA ; Hwa Young PARK ; Kang Mo AHN ; Chang Seok KI ; Jeong Ho KIM

The Korean Journal of Laboratory Medicine 2008;28(4):274-281

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