Results 241 to 250 of about 13,378 (282)

Mapping Protein Distribution in the Canine Photoreceptor Sensory Cilium and Calyceal Processes by Ultrastructure Expansion Microscopy. [PDF]

Invest Ophthalmol Vis Sci
Takahashi K, Sudharsan R, Beltran WA.
europepmc   +1 more source

Nephronophthisis and Retinitis Pigmentosa (Senior-Loken Syndrome) After Living-Donor Kidney Transplantation: Twelve-Year Follow-Up in a Young Woman. [PDF]

J Med Cases
Matsuo T, Onishi Y, Morinaga H, Wada J, Tanaka T, Araki M.   +5 more
europepmc   +1 more source

RAB23loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

Leong W, Tung W, Chui W, Wilkie AOM, Hor C.   +4 more
europepmc   +1 more source

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

Loss of the Reissner Fiber and increased URP neuropeptide signaling underlie scoliosis in a zebrafish ciliopathy mutant

, 2019
Christine Vesque, Isabelle Anselme, Guillaume Pézeron, Yasmine Cantaut-Belarif, Alexis Eschstruth, Morgane Djebar, Diego López Santos, Hélène Le Ribeuz, Arnim Jenett, Hanane Khoury, Joëlle Véziers, Caroline Parmentier, Sylvie Schneider‐Maunoury   +12 more
openalex   +1 more source

The bidirectional relationship between cilia and PCP signaling pathway core protein Vangl2. [PDF]

Sci Prog
Qin H, Liang T, Zhang C, Wu J, Sheng X.
europepmc   +1 more source

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome. [PDF]

Hum Genomics
García-Bohórquez B, Marín-Reina P, Aller E, Barberán-Martínez P, Armengot M, Llorens-Salvador R, Almor-Palacios IC, Millán JM, García-García G.   +8 more
europepmc   +1 more source

Case Report: Identification of a novel hemizygous <i>CFAP47</i> variant in a primary ciliary dyskinesia patient with dual ciliary and flagellar defects. [PDF]

Front Med (Lausanne)
He M, Zhou W, Li Y, Chen Q, Liu Y, Tian X, Zhang X.   +6 more
europepmc   +1 more source

Rare diseases and big data : biocomputing solutions towards knowledge-guided analyses : applications to ciliopathies

, 2016
Kirsley Chennen
openalex   +1 more source

Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a Inv-like ciliary compartment [PDF]

core   +1 more source