Results 181 to 190 of about 12,198 (227)

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

Turk J Ophthalmol
Aksoy B, Tigrel G.
europepmc   +1 more source

The digital epidemiology of dysencephalia splanchnocystica, AKA meckel–gruber syndrome: Retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Ahmed Al-Imam
doaj   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies. [PDF]

Andrology
Cavarocchi E, Drouault M, Ribeiro JC, Simon V, Whitfield M, Touré A.   +5 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. [PDF]

Int J Mol Sci
Deconte D, Diniz BL, Hartmann JK, de Souza MA, Zottis LFF, Zen PRG, Rosa RFM, Fiegenbaum M.   +7 more
europepmc   +1 more source

MOESM1 of Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons

, 2018
Judith G.M. Bergboer, Cameron Wyatt, Christina Austin‐Tse, Emre Yaksi, Iain A. Drummond   +4 more
openalex   +2 more sources

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

Aarts E, Laman Trip D, Neatu R, Martin C, Riley B, Kraus A, Green A, Al-Hamed M, Armstrong R, Sayer J, Bachmann-Gagescu R, Beltrao P.   +11 more
europepmc   +1 more source

Brief biology and pathophysiology of Tekt bundles. [PDF]

Cell Adh Migr
Yin J, Liu M, Wang X, Miao H, He W, Liu W, Yu Z, Zhang Q, Bai J, Cheng Y, Ni B.   +10 more
europepmc   +1 more source

First-trimester diagnosis of Meckel syndrome by ultrasonography with suspected mutation of <i>CC2D2A</i>: a case description. [PDF]

Quant Imaging Med Surg
Yao Y, Ma Y, Zhang X, Li P, Zhao Y, Ma B.   +5 more
europepmc   +1 more source

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa

, 2019
Vítor K. L. Takahashi, Christine L. Xu, Júlia T. Takiuti, Mary Ben L. Apatoff, Jimmy Duong, Vinit B. Mahajan, Stephen H. Tsang   +6 more
openalex   +1 more source