Results 151 to 160 of about 8,699 (199)

In situ proximity ligation assay for analysing spatial interactions between ciliary proteins. [PDF]

BMC Mol Cell Biol
Pfirrmann T, Rüther U, Gerhardt C.
europepmc   +1 more source

Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies. [PDF]

Sci Rep
Bresch J, König J, Konrad M, Kollmann S, Dahmer-Heath M, Heinzow HS, Praktiknjo M, Trebicka J, Bergmann C, Schmidt HH, Schlevogt B.   +10 more
europepmc   +1 more source

Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.

Kidney Blood Press Res
Secondulfo F, Del Vecchio Blanco F, Capolongo G, Piluso G, Nigro V, Perna AF, Capasso G, Zacchia M.   +7 more
europepmc   +1 more source

Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi Family. [PDF]

Mol Genet Genomic Med
Aljeaid D, Almadiny A, Nasser KK, Almutadares M, Issa NM.   +4 more
europepmc   +1 more source

A Fetus with Ciliopathy Caused by a <i>RSPH4A</i> Variant Diagnosed Due to Increased Ventricular Size. [PDF]

J Med Ultrasound
Zhen L, Li DZ.
europepmc   +1 more source

Kinase-dependent regulation of ciliary protein transport and its implications for therapy. [PDF]

Front Mol Biosci
Chaya T, Ayano Y, Furukawa T.
europepmc   +1 more source

Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies. [PDF]

Front Mol Biosci
Sayer JA, Omran H, Zietkiewicz E.
europepmc   +1 more source

A functional and therapeutic investigation of ciliopathy proteins and ciliopathies

openaire   +1 more source