Publications
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Author Title [ Year
] Filters: Author is Bachmann-Gagescu, Ruxandra and Keyword is Eye Abnormalities [Clear All Filters]
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest 130, 4423-4439 (2020).
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet 101, 23-36 (2017).
