Results 141 to 150 of about 11,932 (230)

A Rare Association of Congenital Glaucoma and Retinitis Pigmentosa: A 22-Year Follow-Up Case. [PDF]

Cureus
Matsuo T.
europepmc   +1 more source

Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene. [PDF]

HGG Adv
Arrigo A, Rao V, Ratan A, Kulkarni SS.
europepmc   +1 more source

Analysis of Primary Cilium-Bearing Human Neuroprogenitors Using Flow Cytometry. [PDF]

Stem Cells Int
De Gasperi E, De Vita M, Brusa M, De Gregorio E, Solito S, Azzalin A, Pollara L, Valente EM, Sottile V.   +8 more
europepmc   +1 more source

Cardioacrofacial dysplasia 1: a case report and literature review. [PDF]

Transl Pediatr
Liang C, Wang Z, Bai G.
europepmc   +1 more source

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]

, 2011
Foini P, Izzi C, Maffei P, Marega A, Marshall J, Milan G, Scolari F., Tardanico R   +7 more
core   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +1 more source

Current insights into renal ciliopathies: what can genetics teach us? [PDF]

core   +1 more source

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

, 2014

core   +1 more source

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 more
europepmc   +1 more source

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture. [PDF]

Nat Commun
Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martínez-Gil N, Valverde D, Solarat C, Bruel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner TP, Toriyama M, Marcotte EM, Drew K, Roberson EC, Jackson PK, Reiter JF, Tizzano EF, Wallingford JB.   +29 more
europepmc   +1 more source