Results 231 to 240 of about 9,301 (255)

Rare diseases and big data : biocomputing solutions towards knowledge-guided analyses : applications to ciliopathies

, 2016
Kirsley Chennen
openalex   +1 more source

Clinical variability of <i>BBS1</i> across siblings. [PDF]

BMJ Case Rep
Giang V, Weber SR, Sundstrom JM.
europepmc   +1 more source

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease. [PDF]

Clin Kidney J
Bi J, Guo W, Ji P, Li S, Wang P, Li Q, Xie Y.   +6 more
europepmc   +1 more source

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 more
europepmc   +1 more source

Retinal primary cilia and their dysfunction in retinal neurodegenerative diseases: beyond ciliopathies. [PDF]

Mol Med
Liu X, Pacwa A, Bresciani G, Swierczynska M, Dorecka M, Smedowski A.   +5 more
europepmc   +1 more source

Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management. [PDF]

Genes (Basel)
D'Esposito F, Gagliano G, Gagliano C, Maniaci A, Avitabile A, Giglio R, Reibaldi M, Cordeiro MF, Zeppieri M.   +8 more
europepmc   +1 more source

ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death. [PDF]

J Med Genet
Yang J, Zhang YN, Wang RX, Hao CZ, Qiu Y, Chi H, Luan WS, Tang H, Zhang XJ, Sun X, Sheps JA, Ling V, Cao M, Wang JS.   +13 more
europepmc   +1 more source

Functional characterization of the ANKS3 protein involved in renal ciliopathies and study of its role in the RNAs regulation

, 2018
Gweltas Odye
openalex   +1 more source

KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism. [PDF]

Proc Natl Acad Sci U S A
Soni V, LoTurco JJ.
europepmc   +1 more source