|
XB--484626
Papers associated with mip (and Disease Ontology)
???pagination.result.count???
???pagination.result.page??? 1
| Sort Newest To Oldest | Sort Oldest To Newest |
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability., O'Brien MP, Pryzhkova MV, Lake EMR, Mandino F, Shen X, Karnik R, Atkins A, Xu MJ, Ji W, Konstantino M, Brueckner M, Ment LR, Khokha MK, Jordan PW., Int J Mol Sci. December 28, 2023; 25 (1):  |
|
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa., Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V., JCI Insight. November 8, 2023; 8 (21):  |
|
A novel MIP mutation in a Chinese family with congenital cataract., Yuan C, Han T, Su P, Liu M, Zhou X, Zhang D, Jia W, Wang A, Yue M, Xiang Z, Chen L, Zhang X., Ophthalmic Genet. August 1, 2018; 39 (4): 473-476. |
|
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development., Nakayama T, Nakajima K, Cox A, Fisher M, Fisher M, Howell M, Fish MB, Yaoita Y, Grainger RM., Dev Biol. June 15, 2017; 426 (2): 472-486.  |
|
Functional characterization of an AQP0 missense mutation, R33C, that causes dominant congenital lens cataract, reveals impaired cell-to-cell adhesion., Kumari SS, Gandhi J, Mustehsan MH, Eren S, Varadaraj K., Exp Eye Res. November 1, 2013; 116 371-85.  |
|
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract., Senthil Kumar G, Kyle JW, Minogue PJ, Dinesh Kumar K, Vasantha K, Berthoud VM, Beyer EC, Santhiya ST., Exp Eye Res. May 1, 2013; 110 136-41. |
???pagination.result.page??? 1