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1.Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development
Kuil, LE, MacKenzie,
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Kuil, LE, MacKenzie, KC, Tang, CS, Windster, JD, Le, TL, Karim, A, de Graaf, BM, van der Helm, R, van Bever, Y, Sloots, CEJ, Meeussen, C, Tibboel, D, de Klein, A, Wijnen, RMH, Amiel, J, Lyonnet, S, Garcia-Barcelo, MM, Tam, PKH, Alves, MM, Brooks, AS, Hofstra, RMW, Brosens, E
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PLOS GENETICS[1553-7404],
Published 2021,
Volume 17,
Issue 8,
收錄情况:
WOS
SCOPUS
WOS核心合集引用: 18
2023影響因子:
4.0
发表年影響因子:
6.020
2.Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population
Yu, MHC, Chan, MCY,
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Yu, MHC, Chan, MCY, Chung, CCY, Li, AWT, Yip, CYW, Mak, CCY, Chau, JFT, Lee, M, Fung, JLF, Tsang, MHY, Chan, JCK, Wong, WHS, Yang, J, Chui, WCM, Chung, PHY, Yang, WL, Lee, SL, Chan, GCF, Tam, PKH, Lau, YL, Tang, CSM, Yeung, KS, Chung, BHY
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PLOS GENETICS[1553-7404],
Published 2021,
Volume 17,
Issue 2,
收錄情况:
WOS
SCOPUS
WOS核心合集引用: 18
2023影響因子:
4.0
发表年影響因子:
6.020
3.Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
Tang, CSM, Cheng, G,
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Tang, CSM, Cheng, G, So, MT, Yip, BHK, Miao, XP, Wong, EHM, Ngan, ESW, Lui, VCH, Song, YQ, Chan, D, Cheung, K, Yuan, ZW, Lei, L, Chung, PHY, Liu, XL, Wong, KKY, Marshall, CR, Scherer, S, Cherny, SS, Sham, PC, Tam, PKH, Garcia-Barcelo, MM
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PLOS GENETICS[1553-7404],
Published 2012,
Volume 8,
Issue 5,
收錄情况:
WOS
SCOPUS
WOS核心合集引用: 23
2023影響因子:
4.0
发表年影響因子:
8.517
4.A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Mederer, T, Schmitte
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Mederer, T, Schmitteckert, S, Volz, J, Martinez, C, Roth, R, Thumberger, T, Eckstein, V, Scheuerer, J, Thoni, C, Lasitschka, F, Carstensen, L, Gunther, P, Holland-Cunz, S, Hofstra, R, Brosens, E, Rosenfeld, JA, Schaaf, CP, Schriemer, D, Ceccherini, I, Rusmini, M, Tilghman, J, Luzon-Toro, B, Torroglosa, A, Borrego, S, Tang, CSM, Garcia-Barcelo, M, Tam, P, Paramasivam, N, Bewerunge-Hudler, M, De La Torre, C, Gretz, N, Rappold, GA, Romero, P, Niesler, B
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PLOS GENETICS[1553-7404],
Published 2020,
Volume 16,
Issue 11,
收錄情况:
WOS
SCOPUS
WOS核心合集引用: 7
2023影響因子:
4.0
发表年影響因子:
5.917