Results 151 to 160 of about 12,076 (219)

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

EFA6A regulates retinal function through the control of photoreceptor cell activity and structure. [PDF]

iScience
Abélanet S, Pagnotta S, Brau F, Péquignot M, Scheuermann V, Lacas-Gervais S, Rovere C, Corinus A, Della-Croce L, Delettre C, Luton F, Franco M.   +11 more
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

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

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis. [PDF]

J Clin Invest
He R, Li Y, Jin M, Jiao H, Shen Y, Han Q, Pan X, Wang S, Lin Z, Li J, Lu C, Meng D, Cao Z, Shang Q, Lv N, Wan K, Gao H, Ma X, Yin H, Chang H, Wang L, Luo M, Pan J, Zhao C, Cao M.   +24 more
europepmc   +1 more source

Novel homozygous <i>C3orf67</i> gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. [PDF]

World J Exp Med
Alkhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SA, Abosabie SA, Kamal NM.   +7 more
europepmc   +1 more source

Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]

, 2017
et al,, Montague, Michael J
core   +1 more source

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience. [PDF]

Pediatr Gastroenterol Hepatol Nutr
Altay D, Yel S, Dursun İ, Arslan D.
europepmc   +1 more source

Engaging patient-led rare disease organizations to advance research - through the lens of Bardet-Biedl syndrome. [PDF]

J Cell Sci
Ogden T, de Graaf B, Hymers T.
europepmc   +1 more source