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Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma Lahola-Chomiak, Adrian A.; Footz, Tim; Nguyen-Phuoc, Kim; Neil, Gavin J.; Fan, Baojian; Allen, Ken F.; Greenfield, David S.; Parrish, Richard K.; Linkroum, Kevin; Pasquale, Louis R.; Leonhardt, Ralf M.; Ritch, Robert; Javadiyan, Shari; Craig, Jamie E.; Allison, W. T.; Lehmann, Ordan J.; Walter, Michael A.; Wiggs, Janey L. 分享 收藏
FOXF2 is required for cochlear development in humans and mice Bademci, Guney; Abad, Clemer; Incesulu, Armagan; Elian, Fahed; Reyahi, Azadeh; Diaz-Horta, Oscar; Cengiz, Filiz B.; Sineni, Claire J.; Seyhan, Serhat; Atli, Emine Ikbal; Basmak, Hikmet; Demir, Selma; Nik, Ali Moussavi; Footz, Tim; Guo, Shengru; Duman, Duygu; Fitoz, Suat; Gurkan, Hakan; Blanton, Susan H.; Walter, Michael A.; Carlsson, Peter; Walz, Katherina; Tekin, Mustafa 分享 收藏
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Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma Protas, Meredith E.; Weh, Eric; Footz, Tim; Kasberger, Jay; Baraban, Scott C.; Levin, Alex V.; Katz, L. Jay; Ritch, Robert; Walter, Michael A.; Semina, Elena V.; Gould, Douglas B. 分享 收藏
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A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones Ure, Megan E.; Heydari, Emma; Pan, Wanling; Ramesh, Ajay; Rehman, Sabah; Morgan, Catherine; Pinsk, Maury; Erickson, Robin; Herrmann, Johannes M.; Dimke, Henrik; Cordat, Emmanuelle; Lemaire, Mathieu; Walter, Michael; Alexander, R. Todd 分享 收藏
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FOXA1 deletion in luminal epithelium causes prostatic hyperplasia and alteration of differentiated phenotype DeGraff, David J.; Grabowska, Magdalena M.; Case, Tom C.; Yu, Xiuping; Herrick, Mary K.; Hayward, William J.; Strand, Douglas W.; Cates, Justin M.; Hayward, Simon W.; Gao, Nan; Walter, Michael A.; Buttyan, Ralph; Yi, Yajun; Kaestner, Klaus H.; Matusik, Robert J. 分享 收藏
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