Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes
Article in Genes (July 2024)
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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report
Article in Molecular Genetics & Genomic Medicine (July 2024)
Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome
Article in Frontiers in Genetics (September 2023)