Publications
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Author Title [ Year] Filters: Keyword is Mutation, Missense and Author is Schrauwen, Isabelle [Clear All Filters]
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci 59, 4552-4557 (2018).
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet 137, 471-478 (2018).