Results 161 to 170 of about 11,932 (230)

Severe ciliopathy-related phenotypes in mice with dysregulation of tubulin polyglutamylation [PDF]

core   +1 more source

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]

, 2017
Connolly, Anne M, Cooper, Megan A, Dharnidharka, Vikas R, et al,, Willing, Marcia C   +4 more
core   +2 more sources

Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]

Front Vet Sci
Toler S, Abrams K, Ward D.
europepmc   +1 more source

Role of primary cilia in non-dividing and post-mitotic cells [PDF]

, 2017

core   +1 more source

Bardet-Biedl syndrome in two sibling pairs: a case series. [PDF]

J Med Case Rep
Aziz A, Shahzil M, Arshad A, Asghar MR, Latif M, Riaz A, Bashir K, Saleem N, Ahmed Z.   +8 more
europepmc   +1 more source

A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing. [PDF]

Mol Genet Genomic Med
Kong F, Yin Z, Zhou H, Liu Z, Xie W.
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

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome. [PDF]

PLoS Genet
Leong WY, Tung WL, Wilkie AOM, Hor CHH.
europepmc   +1 more source

Editorial: Advances in cilia and flagella research. [PDF]

Front Cell Dev Biol
Wirschell M, Lee L, Liu A.
europepmc   +1 more source

Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan. [PDF]

Case Rep Med
Sholan R, Aliyev R, Bakhshaliyeva N, Almazkhanli A, Ismayilov R, Sultan M.   +5 more
europepmc   +1 more source