Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]
Clin Case RepAhsan MU, Shaheen S, Ahmed S.
europepmc +1 more source
The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome‐related disorders [PDF]
, 2011 Shifteh Sattar, Joseph G. Gleeson
openalex +1 more source
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CureusShahab S, Khan JA.
europepmc +1 more source
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Signal Transduct Target TherChiong M, Li H, Lavandero S.
europepmc +1 more source
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J Med GenetD'Abrusco F +13 more
europepmc +1 more source
Ciliopathy with special emphasis on kartageners syndrome.
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openalex +1 more source
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, 2017 Connolly, Anne M +4 more
core +2 more sources
Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes. [PDF]
Front Vet SciToler S, Abrams K, Ward D.
europepmc +1 more source