ACNP - Italian Periodicals Catalogue

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Results: 1-11 |

Results: 11

IMPORTANCE OF THE GLYCOSYLATION AND POLYADENYLATION VARIANTS IN METACHROMATIC LEUKODYSTROPHY PSEUDODEFICIENCY PHENOTYPE

Authors: HARVEY JS CAREY WF MORRIS CP

Citation: Js. Harvey et al., IMPORTANCE OF THE GLYCOSYLATION AND POLYADENYLATION VARIANTS IN METACHROMATIC LEUKODYSTROPHY PSEUDODEFICIENCY PHENOTYPE, Human molecular genetics (Print), 7(8), 1998, pp. 1215-1219

FIRST-TRIMESTER DIAGNOSIS OF SMITH-LEMLI-OPITZ-SYNDROME

Authors: SHARP P HAAN E FLETCHER JM KHONG TY CAREY WF

Citation: P. Sharp et al., FIRST-TRIMESTER DIAGNOSIS OF SMITH-LEMLI-OPITZ-SYNDROME, Prenatal diagnosis, 17(4), 1997, pp. 355-361

FREQUENCY OF INTRON-8 CFTR POLYTHYMIDINE SEQUENCE VARIANT IN NEONATALBLOOD SPECIMENS

Authors: CHIN S RANIERI E GERACE RL NELSON PV CAREY WF

Citation: S. Chin et al., FREQUENCY OF INTRON-8 CFTR POLYTHYMIDINE SEQUENCE VARIANT IN NEONATALBLOOD SPECIMENS, Lancet, 350(9088), 1997, pp. 1368-1369

HUMAN GENE-MAPPING REPORT

Authors: WOOLLATT E HARVEY JS CALLEN DF CAREY WF MORRIS CP

Citation: E. Woollatt et al., HUMAN GENE-MAPPING REPORT, Chromosome research, 4(5), 1996, pp. 407-407

A SPLICING MUTATION (1898-]T) IN THE CFTR GENE CAUSING CYSTIC-FIBROSIS(1G)

Authors: CRAWFORD J LABRINIDIS A CAREY WF NELSON PV HARVEY JS MORRIS CP

Citation: J. Crawford et al., A SPLICING MUTATION (1898-]T) IN THE CFTR GENE CAUSING CYSTIC-FIBROSIS(1G), Human mutation, 5(1), 1995, pp. 101-102

MUTATION ANALYSIS OF AUSTRALASIAN GAUCHER-DISEASE PATIENTS

Authors: NELSON PV CAREY WF MORRIS CP LEWIS BD

Citation: Pv. Nelson et al., MUTATION ANALYSIS OF AUSTRALASIAN GAUCHER-DISEASE PATIENTS, American journal of medical genetics, 58(4), 1995, pp. 382-382

METACHROMATIC LEUKODYSTROPHY - A NONSENSE MUTATION (Q(486)X) IN THE ARYLSULFATASE-A (ARSA) GENE

Authors: HARVEY JS CAREY WF NELSON PV MORRIS CP

Citation: Js. Harvey et al., METACHROMATIC LEUKODYSTROPHY - A NONSENSE MUTATION (Q(486)X) IN THE ARYLSULFATASE-A (ARSA) GENE, Human molecular genetics, 3(1), 1994, pp. 207-207

NEONATAL SCREENING FOR CYSTIC-FIBROSIS USING IMMUNOREACTIVE TRYPSINOGEN AND DIRECT GENE ANALYSIS - 4 YEARS EXPERIENCE

Authors: RANIERI E LEWIS BD GERACE RL RYALL RG MORRIS CP NELSON PV CAREY WF ROBERTSON EF

Citation: E. Ranieri et al., NEONATAL SCREENING FOR CYSTIC-FIBROSIS USING IMMUNOREACTIVE TRYPSINOGEN AND DIRECT GENE ANALYSIS - 4 YEARS EXPERIENCE, BMJ. British medical journal, 308(6942), 1994, pp. 1469-1472

PITFALLS IN THE PRENATAL-DIAGNOSIS OF PEROXISOMAL BETA-OXIDATION DEFECTS BY CHORIONIC VILLUS SAMPLING

Authors: CAREY WF POULOS A SHARP P NELSON PV ROBERTSON EF HUGHES JL

Citation: Wf. Carey et al., PITFALLS IN THE PRENATAL-DIAGNOSIS OF PEROXISOMAL BETA-OXIDATION DEFECTS BY CHORIONIC VILLUS SAMPLING, Prenatal diagnosis, 14(9), 1994, pp. 813-819

AN ARYLSULFATASE-A (ARSA) MISSENSE MUTATION (T(274)M) CAUSING LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY

Authors: HARVEY JS NELSON PV CAREY WF ROBERTSON EF MORRIS CP

Citation: Js. Harvey et al., AN ARYLSULFATASE-A (ARSA) MISSENSE MUTATION (T(274)M) CAUSING LATE-INFANTILE METACHROMATIC LEUKODYSTROPHY, Human mutation, 2(4), 1993, pp. 261-267

FORMIC-ACID IS A PRODUCT OF THE ALPHA-OXIDATION OF FATTY-ACIDS BY HUMAN SKIN FIBROBLASTS - DEFICIENCY OF FORMIC-ACID PRODUCTION IN PEROXISOME-DEFICIENT FIBROBLASTS

Authors: POULOS A SHARP P SINGH H JOHNSON DW CAREY WF EASTON C

Citation: A. Poulos et al., FORMIC-ACID IS A PRODUCT OF THE ALPHA-OXIDATION OF FATTY-ACIDS BY HUMAN SKIN FIBROBLASTS - DEFICIENCY OF FORMIC-ACID PRODUCTION IN PEROXISOME-DEFICIENT FIBROBLASTS, Biochemical journal, 292, 1993, pp. 457-461

Risultati: 1-11 |