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Results: 1-18 |
Results: 18
LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA
Authors: HAMOSH A MAHER JF BELLUS GA RASMUSSEN SA JOHNSTON MV
Citation: A. Hamosh et al., LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA, The Journal of pediatrics, 132(4), 1998, pp. 709-713
COMPARISON OF THE CLINICAL MANIFESTATIONS OF CYSTIC-FIBROSIS IN BLACK-AND-WHITE PATIENTS
Authors: HAMOSH A FITZSIMMONS SC MACEK M KNOWLES MR ROSENSTEIN BJ CUTTING GR
Citation: A. Hamosh et al., COMPARISON OF THE CLINICAL MANIFESTATIONS OF CYSTIC-FIBROSIS IN BLACK-AND-WHITE PATIENTS, The Journal of pediatrics, 132(2), 1998, pp. 255-259
SENSITIVITY OF THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE IN DETECTION OF KNOWN MUTATIONS AND NOVEL ASIAN MUTATIONS IN CFTR GENE
Authors: MACEK M MERCIER B MACKOVA A MILLER PW HAMOSH A FEREC C CUTTING GR
Citation: M. Macek et al., SENSITIVITY OF THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE IN DETECTION OF KNOWN MUTATIONS AND NOVEL ASIAN MUTATIONS IN CFTR GENE, Human mutation, 9(2), 1997, pp. 136-147
POSSIBLE ASSOCIATION OF THE ALLELE STATUS OF THE CS.7 HHAI POLYMORPHISM-5' OF THE CFTR GENE WITH POSTNATAL FEMALE SURVIVAL/
Authors: MACEK M MACEK M KREBSOVA A NASH E HAMOSH A REIS A VARONMATEEVA R SCHMIDTKE J MAESTRI NE SPERLING K KRAWCZAK M CUTTING GR
Citation: M. Macek et al., POSSIBLE ASSOCIATION OF THE ALLELE STATUS OF THE CS.7 HHAI POLYMORPHISM-5' OF THE CFTR GENE WITH POSTNATAL FEMALE SURVIVAL/, Human genetics, 99(5), 1997, pp. 565-572
MIDAS SYNDROME IN A 46,XX NEWBORN WITH AMBIGUOUS GENITALIA AND A CRYPTIC, DE-NOVO X-Y TRANSLOCATION
Authors: CAMACHO JA GOODMAN BK HAMOSH A HURKO O THOMAS GH
Citation: Ja. Camacho et al., MIDAS SYNDROME IN A 46,XX NEWBORN WITH AMBIGUOUS GENITALIA AND A CRYPTIC, DE-NOVO X-Y TRANSLOCATION, American journal of human genetics, 61(4), 1997, pp. 515-515
IDENTIFICATION OF COMMON CYSTIC-FIBROSIS MUTATIONS IN AFRICAN-AMERICANS WITH CYSTIC-FIBROSIS INCREASES THE DETECTION RATE TO 75-PERCENT
Authors: MACEK M MACKOVA A HAMOSH A HILMAN BC SELDEN RF LUCOTTE G FRIEDMAN KJ KNOWLES MR ROSENSTEIN BJ CUTTING GR
Citation: M. Macek et al., IDENTIFICATION OF COMMON CYSTIC-FIBROSIS MUTATIONS IN AFRICAN-AMERICANS WITH CYSTIC-FIBROSIS INCREASES THE DETECTION RATE TO 75-PERCENT, American journal of human genetics, 60(5), 1997, pp. 1122-1127
NONSTOP TREATMENT OF CYSTIC-FIBROSIS
Authors: DIETZ HC HAMOSH A
Citation: Hc. Dietz et A. Hamosh, NONSTOP TREATMENT OF CYSTIC-FIBROSIS, Nature medicine, 2(6), 1996, pp. 608-608
CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE-MUTATIONS IN ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS
Authors: MILLER PW HAMOSH A MACEK M GREENBERGER PA MACLEAN J WALDEN SM SLAVIN RG CUTTING GR
Citation: Pw. Miller et al., CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE-MUTATIONS IN ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS, American journal of human genetics, 59(1), 1996, pp. 45-51
ASSOCIATION OF ANOPHTHALMIA AND ESOPHAGEAL ATRESIA
Authors: SANDLER D MANCUSO A BECKER T ZORI R HELLRUNG J SILVERSTEIN J BURTON V HAMOSH A WILLIAMS C
Citation: D. Sandler et al., ASSOCIATION OF ANOPHTHALMIA AND ESOPHAGEAL ATRESIA, American journal of medical genetics, 59(4), 1995, pp. 484-491
CORRELATION BETWEEN THE PRESENCE OF CODING SEQUENCE MUTATIONS AND SWEAT CHLORIDE CONCENTRATION IN PANCREATIC SUFFICIENT CF PATIENTS
Authors: CUTTING GR MACEK M MACKOVA A EGAN ME HAMOSH A
Citation: Gr. Cutting et al., CORRELATION BETWEEN THE PRESENCE OF CODING SEQUENCE MUTATIONS AND SWEAT CHLORIDE CONCENTRATION IN PANCREATIC SUFFICIENT CF PATIENTS, American journal of human genetics, 57(4), 1995, pp. 32-32
LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH)
Authors: HAMOSH A MAHER JF BELLUS GA RASMUSSEN SA CUTTING GR JOHNSTON MV VALLE D
Citation: A. Hamosh et al., LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH), American journal of human genetics, 57(4), 1995, pp. 1025-1025
LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH)
Authors: HAMOSH A MAHE JF BELLUS GA RASMUSSEN S CUTTING GR JOHNSTON MV VALLE D
Citation: A. Hamosh et al., LONG-TERM USE OF HIGH-DOSE BENZOATE AND DEXTROMETHORPHAN FOR THE TREATMENT OF NONKETOTIC HYPERGLYCINEMIA (NKH), Pediatric research, 35(4), 1994, pp. 10000152-10000152
CORRELATION BETWEEN GENOTYPE AND PHENOTYPE IN PATIENTS WITH CYSTIC-FIBROSIS - REPLY
Authors: HAMOSH A COREY M
Citation: A. Hamosh et M. Corey, CORRELATION BETWEEN GENOTYPE AND PHENOTYPE IN PATIENTS WITH CYSTIC-FIBROSIS - REPLY, The New England journal of medicine, 330(12), 1994, pp. 866-867
NONSENSE MUTATIONS AND DIMINISHED MESSENGER-RNA LEVELS
Authors: MCINTOSH I HAMOSH A DIETZ HC
Citation: I. Mcintosh et al., NONSENSE MUTATIONS AND DIMINISHED MESSENGER-RNA LEVELS, Nature genetics, 4(3), 1993, pp. 219-219
CORRELATION BETWEEN GENOTYPE AND PHENOTYPE IN PATIENTS WITH CYSTIC-FIBROSIS
Authors: HAMOSH A COREY M
Citation: A. Hamosh et M. Corey, CORRELATION BETWEEN GENOTYPE AND PHENOTYPE IN PATIENTS WITH CYSTIC-FIBROSIS, The New England journal of medicine, 329(18), 1993, pp. 1308-1313
2-DELTA-F508 HOMOZYGOTE SIBLINGS WITH DELAYED-ONSET OF PANCREATIC INSUFFICIENCY CARRY A 2ND CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE MUTATION ON ONE ALLELE
Authors: MACEK M VAVROVA V DAVIS CL HAMOSH A MACEK M CUTTING GR
Citation: M. Macek et al., 2-DELTA-F508 HOMOZYGOTE SIBLINGS WITH DELAYED-ONSET OF PANCREATIC INSUFFICIENCY CARRY A 2ND CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE MUTATION ON ONE ALLELE, American journal of human genetics, 53(3), 1993, pp. 83-83
MUTATION ANALYSIS IN AFRICAN-AMERICAN CYSTIC-FIBROSIS PATIENTS
Authors: CUTTING GR MACEK M HAMOSH A NASH E CURRISTIN SM DAVIS CL KIESEWETTER SS SELDEN RF HILMAN BC ROSENSTEIN BJ
Citation: Gr. Cutting et al., MUTATION ANALYSIS IN AFRICAN-AMERICAN CYSTIC-FIBROSIS PATIENTS, American journal of human genetics, 53(3), 1993, pp. 1149-1149
MUTATION ANALYSIS IN CYSTIC-FIBROSIS PATIENTS WITH PANCREATIC SUFFICIENCY, PANCREATITIS, BORDERLINE SWEAT CHLORIDE CONCENTRATIONS OR ISOLATED CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS
Authors: HAMOSH A MACEK M NASH E CURRISTIN SM ROSENSTEIN BJ CUTTING GR
Citation: A. Hamosh et al., MUTATION ANALYSIS IN CYSTIC-FIBROSIS PATIENTS WITH PANCREATIC SUFFICIENCY, PANCREATITIS, BORDERLINE SWEAT CHLORIDE CONCENTRATIONS OR ISOLATED CONGENITAL BILATERAL ABSENCE OF THE VAS-DEFERENS, American journal of human genetics, 53(3), 1993, pp. 1169-1169
Risultati: 1-18 |