Publications
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Filters: Author is Arno, Gavin and Keyword is DNA Mutational Analysis [Clear All Filters]
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. Genet Med. 2022 ;24(7):1523-1535.
. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. Molecular and Clinical Findings in Patients With Knobloch Syndrome. JAMA Ophthalmol. 2016 ;134(7):753-62.
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