Results 191 to 200 of about 9,301 (255)

Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest [PDF]

, 2018
Carsten Bergmann
openalex   +1 more source

Urinary Dickkopf-3 Reflects Disease Severity and Predicts Short-Term Kidney Function Decline in Renal Ciliopathies. [PDF]

Kidney Int Rep
Dahmer-Heath M, Gerß J, Fliser D, Liebau MC, Speer T, Telgmann AK, Burgmaier K, Pennekamp P, Pape L, Schaefer F, Konrad M, König JC, NEOCYST Consortium.   +12 more
europepmc   +1 more source

661W photoreceptor cell line as a cell model for studying retinal ciliopathies [PDF]

, 2018
Gabrielle Wheway, Liliya Nazlamova, Dann Turner, Stephen Cross   +3 more
openalex   +1 more source

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies. [PDF]

BMC Med Inform Decis Mak
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A.   +13 more
europepmc   +1 more source

The Many Faces of Oral-Facial-Digital Syndrome

Balkan Journal of Medical Genetics, 2012
Sukarova-Angelovska E, Angelkova N, Palcevska-Kocevska S, Kocova M   +3 more
doaj   +1 more source

Ciliary and Non-Ciliary Roles of IFT88 in Development and Diseases. [PDF]

Int J Mol Sci
Wang X, Yin G, Yang Y, Tian X.
europepmc   +1 more source

CT and MR Imaging Findings in the Joubert Syndrome, a "Ciliopathy"

, 2015
Kaveh Akbari, Christine M. Fellner, Daniel Flöry, Franz A. Fellner   +3 more
openalex   +2 more sources

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies. [PDF]

Diagnostics (Basel)
Margiotti K, Fabiani M, Cima A, Viola A, Monaco F, Alì C, Zangheri C, Abramo C, Coco C, Mesoraca A, Giorlandino C.   +10 more
europepmc   +1 more source

The ciliopathy gene ftm/rpgrip1l controls mouse forebrain patterning via region-specific modulation of hedgehog/gli signaling [PDF]

, 2019
Abraham Andreu‐Cervera, Isabelle Anselme, Alice Karam, Christine Laclef, Martin Catala, Sylvie Schneider‐Maunoury   +5 more
openalex   +1 more source

Current insights into renal ciliopathies: what can genetics teach us? [PDF]

core   +1 more source