Results 221 to 230 of about 12,422 (262)

Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management. [PDF]

Biomolecules
Zhou D, Zeng Y, Luo W, Leng C, Li C.
europepmc   +1 more source

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7. [PDF]

Mol Syndromol
Yang X, Zhou X, Zhou C, Li C, Wu S, Zhou Y, Du J, Guo X, Huang X.   +8 more
europepmc   +1 more source

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies. [PDF]

Sci Adv
Khan K, Tavares E, Bishara K, Ozanturk A, Qebibo L, Frangakis S, Calame DG, Meunier I, Bocquet B, Ploski R, Al Khateeb MA, Marafi D, Mansard L, Damaj L, Lewis RA, Ullah F, Arbogast T, Ogden JP, Harion M, Willems M, Zaki MS, Bartolomaeus T, Roux AF, Lupski JR, Rydzanicz M, Jamra RA, Ramond F, Heon E, Burglen L, Davis EE.   +29 more
europepmc   +1 more source

Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia. [PDF]

Cells
Quelhas P, Morgado D, Santos JD.
europepmc   +1 more source

Compound heterozygous missense and intronic variants in <i>B9D1</i> contribute to a recurrent Meckel syndrome pedigree. [PDF]

Front Genet
Jing H, Xu B, Wang H, Liu S, Wang H, Mai J, Yao W, Zhang Z.   +7 more
europepmc   +1 more source

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]

Turk J Ophthalmol
Aksoy B, Tigrel G.
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

Focal adhesion-related non-ciliary functions of CEP290. [PDF]

PLoS One
Matsuo K, Nakajima Y, Shigeta M, Kobayashi D, Sakaki S, Inoue S, Takeshita N, Ueyama A, Nishikawa K, Saba R, Yamasaki H, Yamada K, Yokoyama T, Yashiro K.   +13 more
europepmc   +1 more source

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

Leong W, Tung W, Chui W, Wilkie AOM, Hor C.   +4 more
europepmc   +1 more source