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Results: 1-25 | 26-37 |
Results: 26-37/37
A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME
Authors: TURCO AE ROSSETTI S BIASI MO RIZZONI G MASSELLA L SAARINEN NH RENIERI A PIGNATTI PF DEMARCHI M
Citation: Ae. Turco et al., A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME, Clinical genetics, 48(5), 1995, pp. 261-263
MUTATION SCANNING OF THE ENTIRE COL4A5 CODING SEQUENCE IN ALPORT SYNDROME AND GENOTYPE-PHENOTYPE CORRELATION
Authors: RENIERI A BRUTTINI M GALLI L NERI T ZANELLI P TURCO A ROSSETTI S MERONI M SESSA A MASSELLA L RIZZONI G PIGNATTI GF SAVI M BALLABIO A DEMARCHI M
Citation: A. Renieri et al., MUTATION SCANNING OF THE ENTIRE COL4A5 CODING SEQUENCE IN ALPORT SYNDROME AND GENOTYPE-PHENOTYPE CORRELATION, American journal of human genetics, 57(4), 1995, pp. 35-35
NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD)
Authors: TURCO AE ROSSETTI S BRESIN E RESTAGNO G CARBONARA A GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., NOVEL NONSENSE MUTATIONS IN THE PKD1 GENE IN ITALIAN FAMILIES WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD), American journal of human genetics, 57(4), 1995, pp. 1330-1330
RAPID DNA-BASED PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE PEISSEL B ROSSETTI S PIGNATTI PF
Citation: Ae. Turco et al., RAPID DNA-BASED PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE, Archives of pediatrics & adolescent medicine, 148(10), 1994, pp. 1101-1102
A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940 2943 DEL A) IN EXON 34 OF COL4A5/
Authors: PEISSEL B ROSSETTI S RENIERI A GALLI L DEMARCHI M BATTINI G MERONI M SESSA A SCHIAVANO S PIGNATTI PF TURCO AE
Citation: B. Peissel et al., A NOVEL FRAMESHIFT DELETION IN TYPE-IV COLLAGEN ALPHA-5 GENE IN A JUVENILE-TYPE ALPORT SYNDROME PATIENT - AN ADENINE DELETION (2940 2943 DEL A) IN EXON 34 OF COL4A5/, Human mutation, 3(4), 1994, pp. 386-390
SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME
Authors: RENIERI A GALLI L DEMARCHI M VOLTI SL MOLLICA F LUPO A MASCHIO G PEISSEL B ROSSETTI S PIGNATTI P TURCO AE
Citation: A. Renieri et al., SINGLE-BASE PAIR DELETIONS IN EXONS 39 AND 42 OF THE COL4A5 GENE IN ALPORT SYNDROME, Human molecular genetics, 3(1), 1994, pp. 201-202
DYNAMICS OF PHOSPHORUS AND ORGANIC SUBSTRATES IN ANAEROBIC AND AEROBIC PHASES OF A SEQUENCING BATCH REACTOR
Authors: CARUCCI A MAJONE M RAMADORI R ROSSETTI S
Citation: A. Carucci et al., DYNAMICS OF PHOSPHORUS AND ORGANIC SUBSTRATES IN ANAEROBIC AND AEROBIC PHASES OF A SEQUENCING BATCH REACTOR, Water science and technology, 30(6), 1994, pp. 237-246
SURVEY ON THE OCCURRENCE OF FILAMENTOUS ORGANISMS IN MUNICIPAL WASTE-WATER TREATMENT PLANTS RELATED TO THEIR OPERATING-CONDITIONS
Authors: ROSSETTI S CARUCCI A ROLLE E
Citation: S. Rossetti et al., SURVEY ON THE OCCURRENCE OF FILAMENTOUS ORGANISMS IN MUNICIPAL WASTE-WATER TREATMENT PLANTS RELATED TO THEIR OPERATING-CONDITIONS, Water science and technology, 29(7), 1994, pp. 305-308
SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE
Authors: TURCO AE PEISSEL B ROSSETTI S PIGNATTI PF PADOVANI EM CHIAFFONI GP
Citation: Ae. Turco et al., SKELETAL MALFORMATIONS AND POLYCYSTIC KIDNEY-DISEASE, Journal of Medical Genetics, 31(9), 1994, pp. 741-742
PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA
Authors: TURCO AE PEISSEL B ROSSETTI S SELICORNI A MANOUKIAN S BRUSASCO A TADINI G GALIMBERTI A TASSIS B TUROLLA L TENCONI R PIGNATTI PF
Citation: Ae. Turco et al., PRENATAL TESTING IN A FETUS AT RISK FOR AUTOSOMAL-DOMINANT POLYCYSTICKIDNEY-DISEASE AND AUTOSOMAL RECESSIVE JUNCTIONAL EPIDERMOLYSIS-BULLOSA WITH PYLORIC ATRESIA, American journal of medical genetics, 47(8), 1993, pp. 1225-1230
MOLECULAR-GENETIC DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A NEWBORN WITH BILATERAL CYSTIC KIDNEYS DETECTED PRENATALLY AND MULTIPLE SKELETAL MALFORMATIONS
Authors: TURCO AE PADOVANI EM CHIAFFONI GP PEISSEL B ROSSETTI S MARCOLONGO A GAMMARO L MASCHIO G PIGNATTI PF
Citation: Ae. Turco et al., MOLECULAR-GENETIC DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE IN A NEWBORN WITH BILATERAL CYSTIC KIDNEYS DETECTED PRENATALLY AND MULTIPLE SKELETAL MALFORMATIONS, Journal of Medical Genetics, 30(5), 1993, pp. 419-422
COMPARATIVE-STUDY OF COLLECTION PROCEDURES IN EXPERIMENTAL PSEUDOMONAS-AERUGINOSA CORNEAL INFECTION
Authors: DALESSANDRO L LYNCH J ROSSETTI S SCARFONE H
Citation: L. Dalessandro et al., COMPARATIVE-STUDY OF COLLECTION PROCEDURES IN EXPERIMENTAL PSEUDOMONAS-AERUGINOSA CORNEAL INFECTION, Investigative ophthalmology & visual science, 33(4), 1992, pp. 776-776
Risultati: 1-25 | 26-37 |