Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest [PDF]
, 2018 Carsten Bergmann
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New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication. [PDF]
Reports (MDPI)Furuta Y +3 more
europepmc +1 more source
661W photoreceptor cell line as a cell model for studying retinal ciliopathies [PDF]
, 2018 Gabrielle Wheway +3 more
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Erratum to "Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease" [<i>Kidney International Reports</i> Volume 10, Issue 4, April 2025, Pages 1196-1204]. [PDF]
Kidney Int RepSerrano B, Savige J.
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CT and MR Imaging Findings in the Joubert Syndrome, a "Ciliopathy"
, 2015 Kaveh Akbari +3 more
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Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome. [PDF]
Hum GenomicsGarcía-Bohórquez B +8 more
europepmc +1 more source
Genome-Based Advances in Modeling Renal Ciliopathies and Enhancing Patient Care.
Kidney Blood Press ResSecondulfo F +7 more
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Multifaceted Primary Ciliary Dyskinesia-A Case Report. [PDF]
Reports (MDPI)Yahya D +3 more
europepmc +1 more source
Identification and bioinformatics analysis of cilia-associated gene families in <i>Euplotes amieti</i> (Ciliophora, Hypotrichia). [PDF]
Front MicrobiolShen L +5 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 +5 more
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