Søgeresultater - Garcia-Barcelo, Maria-Mercè

Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population af 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

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

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AB113. The first genetic study on congenital choledochal dilatation (CCD) implicates extracellular matrix proteins af 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

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Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype af 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

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Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis af 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

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Gene Network Analysis of Candidate Loci for Human Anorectal Malformations af 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

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Conditional deletion of platelet derived growth factor receptor alpha (Pdgfra) in urorectal mesenchyme causes mesenchyme apoptosis and urorectal developmental anomalies in mice af 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

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Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia af 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

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Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population af 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

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Sacral agenesis: a pilot whole exome sequencing and copy number study af 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.

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A random forest-based framework for genotyping and accuracy assessment of copy number variations af 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

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Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing af 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

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Cancer gene mutations in congenital pulmonary airway malformation patients af 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

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Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism af 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

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Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes af 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

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Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors af 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.

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Whole-genome analysis of noncoding genetic variations identifies multiscale regulatory element perturbations associated with Hirschsprung disease af 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.

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AB080. Genetic findings provide insight of biliary atresia patient complexity af 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

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Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans af 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

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Functional polymorphisms in the promoter of BRCA1 influences transcription and are associated with decreased risk for breast cancer in Chinese women af 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

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