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Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
16小时前
待确认
Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort
18小时前
已完结
Clinical exome sequencing findings in 1589 patients
18小时前
已完结
Clinical and molecular characterization in a cohort of patients with progressive pseudorheumatoid dysplasia
18小时前
已完结
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