Results 171 to 180 of about 12,422 (262)

Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies [PDF]

, 2017
Elizabeth N. Schock, Samantha A. Brugmann   +1 more
openalex   +1 more source

A network-based approach to dissect the cilia/centrosome complex interactome [PDF]

, 2014

core   +1 more source

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

Basel exon skipping - a novel model of disease pathogenesis to explain CEP290-associated retinal degeneration and related ciliopathies

, 2014
Adam Wojno, Theodore G. Drivas, Budd A. Tucker, Edwin M. Stone, Jean Bennett   +4 more
openalex   +1 more source

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies. [PDF]

HGG Adv
Rushforth R, Reynolds K, Estes SI, Nolan DK, Mori M, Koboldt DC, Hunter JM, Stottmann RW.   +7 more
europepmc   +1 more source

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy [PDF]

, 2017
Johannes Birtel, Martin Gliem, Elisabeth Mangold, Lars Tebbe, Isabel Spier, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Uwe Wolfrum, Hanno J. Bolz, Peter Charbel Issa   +10 more
openalex   +1 more source

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

Disrupting mitochondrial β-oxidation by depletion of HADHA impairs primary ciliogenesis. [PDF]

Sci Rep
Kim JB, Kim YH, Kim SH, Hyung H, So JH, Park D, Park NY, Choi DK, Bae JE, Cho DH.   +9 more
europepmc   +1 more source

Nephronophthisis - A Genetic Cause of Ciliopathy [PDF]

, 2017
Sanjeev Kumar Jain
openalex   +1 more source

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome. [PDF]

Diagnostics (Basel)
Wójcik-Niklewska B, Oliwa Z, Zdort Z, Smędowski A.   +3 more
europepmc   +1 more source