Results 201 to 210 of about 13,378 (282)

Renal insufficiency caused by <i>TMEM216</i> gene mutation: Case Report. [PDF]

Front Med (Lausanne)
Sun L, Xu M, Deng X, Liu X.
europepmc   +1 more source

Nephronophthisis - A Genetic Cause of Ciliopathy [PDF]

, 2017
Sanjeev Kumar Jain
openalex   +1 more source

Kinase-dependent regulation of ciliary protein transport and its implications for therapy. [PDF]

Front Mol Biosci
Chaya T, Ayano Y, Furukawa T.
europepmc   +1 more source

X-box promoter motif searches: From C. elegans to humans to novel candidate ciliopathies [PDF]

, 2017
Peter Swoboda
openalex   +1 more source

Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest [PDF]

, 2018
Carsten Bergmann
openalex   +1 more source

Screening ciliopathy genes in the model organism Trypanosoma brucei [PDF]

, 2012
K Towers, S Barry, S Vaughan
core   +1 more source

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies [PDF]

, 2018
Michaela Kunova Bosakova, Miroslav Vařecha, Marek Hampl, Iván Durán, Alexandru Niţă, Marcela Buchtová, Hana Dosedělová, Radek Machát, Yangli Xie, Zhenhong Ni, Jorge Martı́n, Lin Chen, Gert Jansen, Deborah Krakow, Pavel Krejčı́   +14 more
openalex   +1 more source

661W photoreceptor cell line as a cell model for studying retinal ciliopathies [PDF]

, 2018
Gabrielle Wheway, Liliya Nazlamova, Dann Turner, Stephen Cross   +3 more
openalex   +1 more source

Investigating the Role of <i>B9D1</i> in Meckel-Gruber Syndrome: A Case Report and Comprehensive Literature Review. [PDF]

Genes (Basel)
Campobasso G, Mercuri L, De Razza F, Cosentino A, Mele M, Monittola A, Congedo C, Calò MC, Scalcione C, D'Amuri A, Mauro S, Lattante S.   +11 more
europepmc   +1 more source

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management. [PDF]

Biomolecules
Zhou D, Zeng Y, Luo W, Leng C, Li C.
europepmc   +1 more source