Results 121 to 130 of about 9,217 (165)

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

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

Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant. [PDF]

Prenat Diagn
Casteleyn T, Vogt M, Weichert A, Zimmer B, Lala B, Henrich W, Königbauer JT.   +6 more
europepmc   +1 more source

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

Pediatr Pulmonol
Horani A.
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

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

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

Cureus
Matsuo T.
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

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