Novel hemizygous single‐nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss
Article in Molecular Genetics & Genomic Medicine (February 2024)
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Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
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Incorporating CNV analysis improves the yield of exome sequencing for rare monogenic disorders—an important consideration for resource-constrained settings
Article in Frontiers in Genetics (December 2023)