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收藏Common CCR5-del32 frameshift mutation associated with serum levels of inflammatory markers and cardiovascular disease risk in the Bruneck population
Afzal, Ali R.; Kiechl, Stefan; Daryani, Yousef P.; Weerasinghe, Arusha; Zhang, Yang; Reindl, Markus; Mayr, Agnes; Weger, Siegfried; Xu, Qingbo; Willeit, Johann
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收藏Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Afzal, AR; Rajab, A; Fenske, CD; Oldridge, M; Elanko, N; Ternes-Pereira, E; Tüysüz, B; Murday, VA; Patton, MA; Wilkie, AOM; Jeffery, S
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收藏Location of mutations within the PKD2 gene influences clinical outcome
Hateboer, N; Veldhuisen, B; Peters, D; Breuning, MH; San-Millán, JL; Bogdanova, N; Coto, E; von Dijk, MA; Afzal, AR; Jeffery, S; Saggar-Malik, AK; Torra, R; Dimitrakov, D; Martinez, I; de Castro, SS; Krawczak, M; Ravine, D
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收藏Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
Afzal, AR; Rajab, A; Fenske, C; Crosby, A; Lahiri, N; Ternes-Pereira, E; Murday, VA; Houlston, R; Patton, MA; Jeffery, S
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收藏Splicing mutations in KCNQ1 -: A mutation hot spot at codon 344 that produces in frame transcripts
Murray, A; Donger, C; Fenske, C; Spillman, I; Richard, P; Dong, YB; Neyroud, N; Chevalier, P; Denjoy, I; Carter, N; Syrris, P; Afzal, AR; Patton, MA; Guicheney, P; Jeffery, S
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