Torthaí cuardaigh - Garcia-Barcelo, Maria-Mercè

Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population de réir Miao, Xiaoping, Garcia‐Barceló, Maria‐Mercè, So, Man‐ting, Yuk‐yu Leon, Thomas, Ko‐chun Lau, Danny, Liu, Ting‐Ting, Kin‐Wai Chan, Edwin, Chuen‐Leung Lan, Lawrence, Kak‐yuen Wong, Kenneth, Chi‐hang Lui, Vincent, Kwong‐hang Tam, Paul, Garcia‐Barceló, Maria‐Mercè, Kwong‐hang Tam, Paul

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Cost effective assay choice for rare disease study designs de réir Campbell, Desmond D, Porsch, Robert M, Cherny, Stacey S, Capra, Valeria, Merello, Elisa, De Marco, Patrizia, Sham, Pak C, Garcia-Barceló, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins de réir Garcia-Barceló, Maria-Mercè, Wong, John Kwong Leong, Ngo, Ngoc Diem, Tran, Ngoc Son, Nguyen, Thanh Liem, Nguyen, Liem, Sham, Pak, Cherny, Stacey, Tam, Paul

Faigh an téacs iomlán Faigh an téacs iomlán

Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype de réir Cheng, William Wai-Chun, Tang, Clara Sze-Man, Gui, Hong-Sheng, So, Man-Ting, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis de réir Cheng, Guo, Chung, Patrick Ho-Yu, Chan, Edwin Kin-Wai, So, Man-Ting, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Gene Network Analysis of Candidate Loci for Human Anorectal Malformations de réir Wong, Emily H. M., Ng, Chun-Laam, Lui, Vincent Chi-Hang, So, Man-ting, Cherny, Stacey S., Sham, Pak-Chung, Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Conditional deletion of platelet derived growth factor receptor alpha (Pdgfra) in urorectal mesenchyme causes mesenchyme apoptosis and urorectal developmental anomalies in mice de réir Qian, Chen, Wu, Zhongluan, Ng, Roy Chun-Laam, Garcia-Barceló, Maria-Mercè, Yuan, Zheng-Wei, Wong, Kenneth Kak Yuen, Tam, Paul Kwong Hang, Lui, Vincent Chi Hang

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia de réir Cui, Long, Wong, Emily Hoi-Man, Cheng, Guo, Firmato de Almeida, Manoel, So, Man-Ting, Sham, Pak-Chung, Cherny, Stacey S., Tam, Paul Kwong-Hang, Garcia-Barceló, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population de réir Cornes, Belinda K., Tang, Clara S., Leon, Thomas Y. Y., Hui, Kenneth J. W. S., So, Man-Ting, Miao, Xiaoping, Cherny, Stacey S., Sham, Pak C., Tam, Paul K. H., Garcia-Barcelo, Maria-Merce

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Sacral agenesis: a pilot whole exome sequencing and copy number study de réir Porsch, Robert M., Merello, Elisa, De Marco, Patrizia, Cheng, Guo, Rodriguez, Laura, So, Manting, Sham, Pak C., Tam, Paul K., Capra, Valeria, Cherny, Stacey S., Garcia-Barcelo, Maria-Mercè, Campbell, Desmond D.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

A random forest-based framework for genotyping and accuracy assessment of copy number variations de réir Zhuang, Xuehan, Ye, Rui, So, Man-Ting, Lam, Wai-Yee, Karim, Anwarul, Yu, Michelle, Ngo, Ngoc Diem, Cherny, Stacey S, Tam, Paul Kwong-Hang, Garcia-Barcelo, Maria-Mercè, Tang, Clara Sze-man, Sham, Pak Chung

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing de réir Tang, Clara SM, Zhuang, Xuehan, Lam, Wai-Yee, Ngan, Elly Sau-Wai, Hsu, Jacob Shujui, Michelle, YU, Man-Ting, SO, Cherny, Stacey S, Ngo, Ngoc Diem, Sham, Pak C, Tam, Paul KH, Garcia-Barcelo, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Cancer gene mutations in congenital pulmonary airway malformation patients de réir Hsu, Jacob Shujui, Zhang, Ruizhong, Yeung, Fanny, Tang, Clara S.M., Wong, John K.L., So, Man-Ting, Xia, Huimin, Sham, Pak, Tam, Paul K., Li, Miaoxin, Wong, Kenneth K.Y., Garcia-Barcelo, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism de réir Liu, Wei, Wong, John KL, He, Qiuming, Wong, Emily HM, Tang, Clara SM, Zhang, Ruizhong, So, Man-ting, Wong, Kenneth KY, Nicholls, John, Cherny, Stacey S, Sham, Pak C, Tam, Paul K, Garcia-Barcelo, Maria-Mercè, Xia, Huimin

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes de réir Wong, John K. L., Campbell, Desmond, Ngo, Ngoc Diem, Yeung, Fanny, Cheng, Guo, Tang, Clara S. M., Chung, Patrick H. Y., Tran, Ngoc Son, So, Man-ting, Cherny, Stacey S., Sham, Pak C., Tam, Paul K., Garcia-Barcelo, Maria-Mercè

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors de réir Tang, Clara Sze Man, Mononen, Mimmi, Lam, Wai-Yee, Jin, Sheng Chih, Zhuang, Xuehan, Garcia-Barcelo, Maria-Mercè, Lin, Qiongfen, Yang, Yujia, Sahara, Makoto, Eroglu, Elif, Chien, Kenneth R., Hong, Haifa, Tam, Paul Kwong Hang, Gruber, Peter J.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease de réir Fu, Alexander Xi, Lui, Kathy Nga-Chu, Tang, Clara Sze-Man, Ng, Ray Kit, Lai, Frank Pui-Ling, Lau, Sin-Ting, Li, Zhixin, Garcia-Barcelo, Maria-Mercè, Sham, Pak-Chung, Tam, Paul Kwong-Hang, Ngan, Elly Sau-Wai, Yip, Kevin Y.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

AB080. Genetic findings provide insight of biliary atresia patient complexity de réir Cheng, Guo, Garcia-Barceló, Maria-Mercè, Chung, Patrick Ho-Yu, Tang, Wai-Kiu, Man Wong, Emily Hoi, Chan, Edwin Kin-Wai, So, Man-Ting, Ngo, Diem Ngoc, Tran, Ngoc Son, Nguyen, Pham Anh Hoa, Sham, Pak-Chung, Cherny, Stacey S., Nicholls, John M., Tam, Paul Kwong-Hang

Faigh an téacs iomlán Faigh an téacs iomlán

Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans de réir Ngan, Elly Sau-Wai, Garcia-Barceló, Maria-Mercè, Yip, Benjamin Hon-Kei, Poon, Hiu-Ching, Lau, Sin-Ting, Kwok, Carmen Ka-Man, Sat, Eric, Sham, Mai-Har, Wong, Kenneth Kak-Yuen, Wainwright, Brandon J., Cherny, Stacey S., Hui, Chi-Chung, Sham, Pak Chung, Lui, Vincent Chi-Hang, Tam, Paul Kwong-Hang

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Functional polymorphisms in the promoter of BRCA1 influences transcription and are associated with decreased risk for breast cancer in Chinese women de réir Chan, Kelvin Yuen-Kwong, Liu, Wei, Long, Ji-Rong, Yip, Shea-Ping, Chan, Sum-Yin, Shu, Xiao-Ou, Chua, Daniel Tsin-Tien, Cheung, Annie Nga-Yin, Ching, Johannes Chi-Yun, Cai, Hui, Au, Gordon Kwok-Hung, Chan, Miranda, Foo, William, Ngan, Hextan Yuen-Sheung, Gao, Yu-Tang, Ngan, Elly Sau-Wai, Garcia-Barceló, Maria-Mercè, Zheng, Wei, Khoo, Ui-Soon

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán