共 50 条
- [21] Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes European Journal of Human Genetics, 2003, 11 : 69 - 76
- [23] Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II MOLECULAR VISION, 2008, 14 (242-44): : 2067 - 2075
- [24] Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes Human Genetics, 1999, 105 : 104 - 111
- [26] Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis MOLECULAR VISION, 2016, 22
- [29] Brief report - A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (17): : 1664 - 1670