1.Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome

Garcia-Barcelo M, So     More...

Garcia-Barcelo M, So, MT, Lau, DKC, Leon, TIYY, Yuan, ZW, Cai, WS, Lui, VCF, Fu, M, Herbrick, JA, Gutter, E, Proud, V, Li, L, Pierre-Louis, J, Aleck, K, Van Heurn, E, Belloni, E, Scherer, SW, Tam, PKH     Less

CLINICAL CHEMISTRY[0009-9147], Published 2006, Volume 52, Issue 1, Pages 46-52

收錄情况： WOS SCOPUS

WOS核心合集引用: 20  2023影響因子:  7.1  发表年影響因子:  5.454 

2.Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease

Lui, VCH, Leon, TYY,     More...

Lui, VCH, Leon, TYY, Garcia-Barcelo, MM, Ganster, RW, Chen, BLS, Hutson, JM, Tam, PKH     Less

CLINICAL CHEMISTRY[0009-9147], Published 2005, Volume 51, Issue 8, Pages 1552-1554

收錄情况： WOS SCOPUS

WOS核心合集引用: 3  2023影響因子:  7.1  发表年影響因子:  7.717 

3.Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease

Garcia-Barcelo, M, S     More...

Garcia-Barcelo, M, Sham, MH, Lee, WS, Lui, VCH, Chen, BLS, Wong, KKY, Wong, JSW, Tam, PKH     Less

CLINICAL CHEMISTRY[0009-9147], Published 2004, Volume 50, Issue 1, Pages 93-100

收錄情况： WOS SCOPUS

WOS核心合集引用: 51  2023影響因子:  7.1  发表年影響因子:  6.501