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- [32] Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report BMC Ophthalmology, 22
- [35] Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants FRONTIERS IN ONCOLOGY, 2022, 12
- [39] Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74 European Journal of Human Genetics, 2020, 28 : 943 - 946