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Results: 1-2 |
Results: 2
MOLECULAR-BASIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE-I - HIGH-FREQUENCY OF THE LEU-292 STOP MUTATION IN 38 PATIENTS
Authors: BRITES P MOTLEY A HOGENHOUT E HETTEMA E WIJBURG F HEIJMANS HSA TABAK HF DISTEL B WANDERS RJA
Citation: P. Brites et al., MOLECULAR-BASIS OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE-I - HIGH-FREQUENCY OF THE LEU-292 STOP MUTATION IN 38 PATIENTS, Journal of inherited metabolic disease, 21(3), 1998, pp. 306-308
SMITH-LEMLI-OPITZ-SYNDROME - DEFICIENT DELTA(7)-REDUCTASE ACTIVITY INCULTURED SKIN FIBROBLASTS AND CHORIONIC VILLUS FIBROBLASTS AND ITS APPLICATION TO PRENATAL AND POSTNATAL DETECTION
Authors: WANDERS RJA ROMEIJN GJ WIJBURG F HENNEKAM RCM DEJONG J WEVERS RA DACREMONT G
Citation: Rja. Wanders et al., SMITH-LEMLI-OPITZ-SYNDROME - DEFICIENT DELTA(7)-REDUCTASE ACTIVITY INCULTURED SKIN FIBROBLASTS AND CHORIONIC VILLUS FIBROBLASTS AND ITS APPLICATION TO PRENATAL AND POSTNATAL DETECTION, Journal of inherited metabolic disease, 20(3), 1997, pp. 432-436
Risultati: 1-2 |