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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

Experimental and Molecular Medicine, 2016
Yo Han Ahn   +2 more
exaly  

Diagnosis and management of ciliopathies

Paediatric Respiratory Reviews, 2011
openaire   +2 more sources
biology
gene
phenotype
genetics
ciliopathies
cilium
cell biology
medicine
joubert syndrome
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