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- [31] Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism Journal of Human Genetics, 2015, 60 : 27 - 34
- [35] Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis Italian Journal of Pediatrics, 40
- [38] Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome Nature Genetics, 2001, 29 : 66 - 69
- [39] Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (05): : 655 - 662