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Ophthalmic Genetics|May 26, 2022
Variability of retinopathy consequent upon novel mutations in LAMA1Elena R Schiff, Nancy Aychoua, Savita Nutan, et al.Clinical Genetics|June 13, 2020
Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variantsEleanor Hay, Robert H Henderson, Sahar Mansour, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosisElena R Schiff, Malena Daich Varela, Anthony G Robson, et al.Pageof 1