The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]
, 2011 Foini P +7 more
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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy [PDF]
, 2020 Benjamin Cogné +76 more
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FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]
, 2012 Silvio Alessandro Di Gioia +8 more
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Clinical and genetic heterogeneity of primary ciliopathies (Review)
, 2021 Ina Ofelia Focșa +2 more
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Prenatal Diagnosis of Joubert Syndrome 23 With Left Isomerism: A Novel Phenotype Associated With Pathogenic KIAA0586 Variant. [PDF]
Prenat DiagnCasteleyn T +6 more
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Meckel-Gruber Syndrome: Prenatal Diagnosis of a Lethal Ciliopathy with Multisystem Anomalies [PDF]
Purnima Gupta +4 more
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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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A network-based approach to dissect the cilia/centrosome complex interactome [PDF]
, 2014 core +1 more source
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies [PDF]
, 2018 Iker Sánchez‐Navarro +20 more
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