Early-onset progressive retinal atrophy associated with an IQCB1 variant in African black-footed cats (Felis nigripes) [PDF]
, 2017 et al,, Montague, Michael J
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The Many Faces of Oral-Facial-Digital Syndrome
Balkan Journal of Medical Genetics, 2012 Sukarova-Angelovska E +3 more
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Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. [PDF]
Hum Mol GenetSentell ZT +15 more
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CT and MR Imaging Findings in the Joubert Syndrome, a "Ciliopathy"
, 2015 Kaveh Akbari +3 more
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Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project [PDF]
, 2019 Gabrielle Wheway, Hannah M. Mitchison
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Progressive Retinal Degeneration and Juvenile Nephronophthisis in a Patient with Autosomal Recessive Ciliopathy: A Case Report. [PDF]
Case Rep OphthalmolPericak JM, Chin EK, Almeida DRP.
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Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis.
Cell Stem Cell, 2020 Murielle Saade +10 more
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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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Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia. [PDF]
CellsQuelhas P, Morgado D, Santos JD.
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy [PDF]
, 2019 Konstantinos Nikopoulos +27 more
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