Results 181 to 190 of about 16,795 (294)

Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia. [PDF]

J Cell Sci
Schermer B, Roepman R, Mick DU.
europepmc   +1 more source

Micrognathia in mouse models of ciliopathies [PDF]

, 2016
Hadeel Adel Al-Lami, William B. Barrell, Karen Liu   +2 more
openalex   +1 more source

Limitations and opportunities in the pharmacotherapy of ciliopathies.

Pharmacology and Therapeutics, 2021
Max Duong Phu, Stefan Bross, M. Burkhalter, M. Philipp   +3 more
semanticscholar   +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

LRRC56 deficiency cause motile ciliopathies in humans and mice. [PDF]

Front Genet
Xie XH, Gu H, Yang JL, Yuan ZZ, Qin KL, Tan ZP.   +5 more
europepmc   +1 more source

Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype

Hisato Suzuki, Yukako Muramatsu, Fuyuki Miya, H. Asada, Mamiko Yamada, Gen Nishimura, Kenjiro Kosaki, Toshiki Takenouchi   +7 more
openalex   +1 more source

Primary cilia function as hubs for signal transduction. [PDF]

Cell Biosci
Li B, He YY, Yang ZM.
europepmc   +1 more source

Meckel-Gruber Syndrome: Prenatal Diagnosis of a Lethal Ciliopathy with Multisystem Anomalies [PDF]

Purnima Gupta, Chetan Khare, Satish Choudhury, Manpreet Kaur, M. Deepika   +4 more
openalex   +1 more source

Decision letter for "Pituitary stalk interruption syndrome broadens the clinical spectrum of the <scp>TTC26</scp> ciliopathy"

, 2020

openalex   +1 more source

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome‐related disorders [PDF]

, 2011
Shifteh Sattar, Joseph G. Gleeson
openalex   +1 more source