共 50 条
- [44] Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations Orphanet Journal of Rare Diseases, 17
- [46] Clinical, haemato-biochemical, radiographic and ultrasonographic findings in bovines suffering from pericarditis and pleural effusions INDIAN JOURNAL OF ANIMAL SCIENCES, 2011, 81 (08): : 827 - 830
- [48] Treacher Collins syndrome: clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature European Journal of Pediatrics, 2012, 171 : 1611 - 1618
- [50] HYPOPHOSPHATASIA: THREE NEW MUTATIONS IN ALPL GENE DESCRIBED IN TWO PATIENTS WITH UNCOMMON CLINICAL MANIFESTATIONS HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 88 - 88