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Results: 1-11 |
Results: 11
CLINICAL AND MOLECULAR CHARACTERIZATION OF BRAZILIAN PATIENTS WITH GROWTH-HORMONE GENE DELETIONS
Authors: ARNHOLD IJP OSORIO MGF OLIVEIRA SB ESTEFAN V KAMIJO T KRISHNAMANI MRS COGAN JD PHILLIPS JA MENDONCA BB
Citation: Ijp. Arnhold et al., CLINICAL AND MOLECULAR CHARACTERIZATION OF BRAZILIAN PATIENTS WITH GROWTH-HORMONE GENE DELETIONS, Brazilian journal of medical and biological research, 31(4), 1998, pp. 491-497
HETEROGENEITY IN CLINICAL MANIFESTATION OF AUTOSOMAL-DOMINANT NEUROHYPOPHYSEAL DIABETES-INSIPIDUS CAUSED BY A MUTATION ENCODING ALA(-1)-]VAL IN THE SIGNAL PEPTIDE OF THE ARGININE-VASOPRESSIN NEUROPHYSIN-II COPEPTIN PRECURSOR
Authors: REPASKE DR MEDLEJ R GULTEKIN EK KRISHNAMANI MRS HALABY G FINDLING JW PHILLIPS JA
Citation: Dr. Repaske et al., HETEROGENEITY IN CLINICAL MANIFESTATION OF AUTOSOMAL-DOMINANT NEUROHYPOPHYSEAL DIABETES-INSIPIDUS CAUSED BY A MUTATION ENCODING ALA(-1)-]VAL IN THE SIGNAL PEPTIDE OF THE ARGININE-VASOPRESSIN NEUROPHYSIN-II COPEPTIN PRECURSOR, The Journal of clinical endocrinology and metabolism, 82(1), 1997, pp. 51-56
CYSTIC-FIBROSIS IN THE BRAZILIAN POPULATION - DF508 MUTATION AND KM-19 XV-2C HAPLOTYPE DISTRIBUTION/
Authors: RASKIN S PHILLIPS JA KRISHNAMANI MRS VNENCAKJONES C PARKER RA ROZOV T CARDIERI JM MAROSTICA P ABREU F GIUGLIANI R REIS F ROSARIO NA LUDWIG N CULPI L
Citation: S. Raskin et al., CYSTIC-FIBROSIS IN THE BRAZILIAN POPULATION - DF508 MUTATION AND KM-19 XV-2C HAPLOTYPE DISTRIBUTION/, Human biology, 69(4), 1997, pp. 499-508
REGIONAL DISTRIBUTION OF CYSTIC FIBROSIS-LINKED DNA HAPLOTYPES IN BRAZIL - MULTICENTER STUDY
Authors: RASKIN S PHILIPS JA KRISHNAMANI MRS VNENCAKJONES C PARKER RA DAWSON E ROZOV T CARDIERI JM MAROSTICA P ABREU F GIUGLIANI R REIS F ROSARIO NA LUDWIG N CULPI L
Citation: S. Raskin et al., REGIONAL DISTRIBUTION OF CYSTIC FIBROSIS-LINKED DNA HAPLOTYPES IN BRAZIL - MULTICENTER STUDY, Human biology, 69(1), 1997, pp. 75-88
GENETIC-MAPPING OF THE HUMAN PITUITARY-SPECIFIC TRANSCRIPTIONAL FACTOR GENE AND ITS ANALYSIS IN FAMILIAL PANHYPOPITUITARY DWARFISM
Authors: RASKIN S COGAN JD SUMMAR ML MORENO A KRISHNAMANI MRS PHILLIPS JA
Citation: S. Raskin et al., GENETIC-MAPPING OF THE HUMAN PITUITARY-SPECIFIC TRANSCRIPTIONAL FACTOR GENE AND ITS ANALYSIS IN FAMILIAL PANHYPOPITUITARY DWARFISM, Human genetics, 98(6), 1996, pp. 703-705
ASSIGNMENT OF THE HUMAN GENE (GLCLR) THAT ENCODES THE REGULATORY SUBUNIT OF GAMMA-GLUTAMYLCYSTEINE SYNTHETASE TO CHROMOSOME 1P21
Authors: SIERRARIVERA E DASOUKI M SUMMAR ML KRISHNAMANI MRS MEREDITH M RAO PN PHILLIPS JA FREEMAN ML
Citation: E. Sierrarivera et al., ASSIGNMENT OF THE HUMAN GENE (GLCLR) THAT ENCODES THE REGULATORY SUBUNIT OF GAMMA-GLUTAMYLCYSTEINE SYNTHETASE TO CHROMOSOME 1P21, Cytogenetics and cell genetics, 72(2-3), 1996, pp. 252-254
DETECTION OF PSEUDOMONAS (BURKHOLDERIA) CEPACIA USING PCR
Authors: CAMPBELL PW PHILLIPS JA HEIDECKER GJ KRISHNAMANI MRS ZAHORCHAK R STULL TL
Citation: Pw. Campbell et al., DETECTION OF PSEUDOMONAS (BURKHOLDERIA) CEPACIA USING PCR, Pediatric pulmonology, 20(1), 1995, pp. 44-49
PHYSICAL AND LINKAGE MAPPING OF HUMAN CARBAMYL-PHOSPHATE SYNTHETASE (CPS1) AND REASSIGNMENT FROM 2P TO 2Q35
Authors: SUMMAR ML DASOUKI MJ SCHOFIELD PJ KRISHNAMANI MRS VNENCAKJONES C TUCHMAN M MAO J PHILLIPS JA
Citation: Ml. Summar et al., PHYSICAL AND LINKAGE MAPPING OF HUMAN CARBAMYL-PHOSPHATE SYNTHETASE (CPS1) AND REASSIGNMENT FROM 2P TO 2Q35, Cytogenetics and cell genetics, 71(3), 1995, pp. 266-267
ASSIGNMENT OF THE GENE (GLCLC) THAT ENCODES THE HEAVY SUBUNIT OF GAMMA-GLUTAMYLCYSTEINE SYNTHETASE TO HUMAN-CHROMOSOME-6
Authors: SIERRARIVERA E SUMMAR ML DASOUKI M KRISHNAMANI MRS PHILLIPS JA FREEMAN ML
Citation: E. Sierrarivera et al., ASSIGNMENT OF THE GENE (GLCLC) THAT ENCODES THE HEAVY SUBUNIT OF GAMMA-GLUTAMYLCYSTEINE SYNTHETASE TO HUMAN-CHROMOSOME-6, Cytogenetics and cell genetics, 70(3-4), 1995, pp. 278-279
DNA ANALYSIS OF CYSTIC-FIBROSIS IN BRAZIL BY DIRECT PCR AMPLIFICATIONFROM GUTHRIE CARDS
Authors: RASKIN S PHILLIPS JA KRISHNAMANI MRS VNENCAKJONES C PARKER RA ROZOV T CARDIERI JM MAROSTICA P ABREU F GIUGLIANI R REIS F ROSARIO NA LUDWIG N PILOTTO RF
Citation: S. Raskin et al., DNA ANALYSIS OF CYSTIC-FIBROSIS IN BRAZIL BY DIRECT PCR AMPLIFICATIONFROM GUTHRIE CARDS, American journal of medical genetics, 46(6), 1993, pp. 665-669
DETECTION OF A NOVEL ARGININE-VASOPRESSIN DEFECT BY DIDEOXY FINGERPRINTING
Authors: KRISHNAMANI MRS PHILLIPS JA COPELAND KC
Citation: Mrs. Krishnamani et al., DETECTION OF A NOVEL ARGININE-VASOPRESSIN DEFECT BY DIDEOXY FINGERPRINTING, The Journal of clinical endocrinology and metabolism, 77(3), 1993, pp. 596-598
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