Results 111 to 120 of about 7,870 (178)

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

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

Situs Inversus Totalis: A Case Report and Literature Review. [PDF]

Clin Case Rep
Du X, Wang N, Sheng J, Zhang Y, Gao J.
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

Linking primary cilia defects to the "Big 3" neurodegenerative diseases - causal, consequential, or correlative? [PDF]

EXCLI J
Hor CHH, Tang BL.
europepmc   +1 more source

Assessment of Renal Changes in Bardet-Biedl Syndrome with Particular Emphasis on Kidney Size, Function, and Blood Pressure Control. [PDF]

J Mother Child
Moskal Z, Szmigielska A.
europepmc   +1 more source

Expanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient. [PDF]

Cureus
M R R, B S S, M M, T P S.
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

The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations. [PDF]

Pediatr Pulmonol
Horani A.
europepmc   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source