Parcourir Liste des unités par auteur "Khan, Mubeen"
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Cost-effective molecular inversion probe-based abca4 sequencing reveals deep-intronic variants in stargardt disease
Khan, Mubeen; Cornelis, Stephanie S.; Khan, Muhammad Imran; et al.Human mutation, 18-06-2019Article dans une revue scientifique -
Deep-intronic abca4 variants explain missing heritability in stargardt disease and allow correction of splice defects by antisense oligonucleotides
Sangermano, Riccardo; Garanto, Alejandro; Khan, Mubeen; et al.Genetics in medicine . official journal of the American College of Medical Genetics, 15-01-2019Article dans une revue scientifique -
Resolving the dark matter of abca4 for 1054 stargardt disease probands through integrated genomics and transcriptomics
Khan, Mubeen; Cornelis, Stephanie S.; Pozo-Valero, Marta Del; et al.Genetics in medicine . official journal of the American College of Medical Genetics, 20-04-2020Article dans une revue scientifique