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Results: 1-10 |
Results: 10
3 NEW MUTATIONS IN A GENE CAUSING HERMANSKY-PUDLAK-SYNDROME - CLINICAL CORRELATIONS
Authors: SHOTELERSUK V HAZELWOOD S LARSON D IWATA F KAISERKUPFER MI KUEHL E BERNARDINI I GAHL WA
Citation: V. Shotelersuk et al., 3 NEW MUTATIONS IN A GENE CAUSING HERMANSKY-PUDLAK-SYNDROME - CLINICAL CORRELATIONS, MOLECULAR GENETICS AND METABOLISM, 64(2), 1998, pp. 99-107
NORMAL BRAIN MYELINATION IN A PATIENT HOMOZYGOUS FOR A MUTATION THAT ENCODES A SEVERELY TRUNCATED METHIONINE ADENOSYLTRANSFERASE I III/
Authors: HAZELWOOD S BERNARDINI I SHOTELERSUK V TANGERMAN A GUO JR MUDD H GAHL WA
Citation: S. Hazelwood et al., NORMAL BRAIN MYELINATION IN A PATIENT HOMOZYGOUS FOR A MUTATION THAT ENCODES A SEVERELY TRUNCATED METHIONINE ADENOSYLTRANSFERASE I III/, American journal of medical genetics, 75(4), 1998, pp. 395-400
GENETIC-DEFECTS AND CLINICAL CHARACTERISTICS OF PATIENTS WITH A FORM OF OCULOCUTANEOUS ALBINISM (HERMANSKY-PUDLAK SYNDROME)
Authors: GAHL WA BRANTLY M KAISERKUPFER MI IWATA F HAZELWOOD S SHOTELERSUK V DUFFY LF KUEHL EM TROENDLE J BERNARDINI I
Citation: Wa. Gahl et al., GENETIC-DEFECTS AND CLINICAL CHARACTERISTICS OF PATIENTS WITH A FORM OF OCULOCUTANEOUS ALBINISM (HERMANSKY-PUDLAK SYNDROME), The New England journal of medicine, 338(18), 1998, pp. 1258-1264
EVIDENCE FOR LOCUS HETEROGENEITY IN PUERTO-RICANS WITH HERMANSKY-PUDLAK-SYNDROME
Authors: HAZELWOOD S SHOTELERSUK V WILDENBERG SC CHEN D IWATA F KAISERKUPFER MI WHITE JG KING RA GAHL WA
Citation: S. Hazelwood et al., EVIDENCE FOR LOCUS HETEROGENEITY IN PUERTO-RICANS WITH HERMANSKY-PUDLAK-SYNDROME, American journal of human genetics, 61(5), 1997, pp. 1088-1094
CLINICAL AND LABORATORY FINDINGS IN HERMANSKY-PUDLAK-SYNDROME (HPS) PATIENTS HOMOZYGOUS FOR A 16-BP DUPLICATION IN THE HPS GENE AND PATIENTS NOT CARRYING THIS MUTATION
Authors: GAHL W BRANTLY M HAZELWOOD S KAISERKUPFER MI IWATA F BERNARDINI I
Citation: W. Gahl et al., CLINICAL AND LABORATORY FINDINGS IN HERMANSKY-PUDLAK-SYNDROME (HPS) PATIENTS HOMOZYGOUS FOR A 16-BP DUPLICATION IN THE HPS GENE AND PATIENTS NOT CARRYING THIS MUTATION, American journal of human genetics, 61(4), 1997, pp. 1458-1458
EVIDENCE FOR DYSREGULATION OF CHOLESTEROL AND TRIGLYCERIDE SYNTHESIS IN AN INFANT WITH FATTY LIVER
Authors: HAZELWOOD S SHOTELERSUK V GUO J HOGANSON G WHITINGTON PF GAHL WA
Citation: S. Hazelwood et al., EVIDENCE FOR DYSREGULATION OF CHOLESTEROL AND TRIGLYCERIDE SYNTHESIS IN AN INFANT WITH FATTY LIVER, American journal of human genetics, 61(4), 1997, pp. 1463-1463
FINE MAPPING OF THE CYSTINOSIS GENE USING AN INTEGRATED GENETIC AND PHYSICAL MAP OF A REGION WITHIN HUMAN-CHROMOSOME BAND 17P13
Authors: MCDOWELL G ISOGAI T TANIGAMI A HAZELWOOD S LEDBETTER D POLYMEROPOULOS MH LICHTERKONECKI U KONECKI D TOWN MM VANTHOFF W WEISSENBACH J GAHL WA
Citation: G. Mcdowell et al., FINE MAPPING OF THE CYSTINOSIS GENE USING AN INTEGRATED GENETIC AND PHYSICAL MAP OF A REGION WITHIN HUMAN-CHROMOSOME BAND 17P13, Biochemical and molecular medicine, 58(2), 1996, pp. 135-141
MATERNAL-BEHAVIOR IN MALE-RATS - EFFECTS OF MEDIAL PREOPTIC AREA LESIONS AND PRESENCE OF MATERNAL AGGRESSION
Authors: ROSENBLATT JS HAZELWOOD S POOLE J
Citation: Js. Rosenblatt et al., MATERNAL-BEHAVIOR IN MALE-RATS - EFFECTS OF MEDIAL PREOPTIC AREA LESIONS AND PRESENCE OF MATERNAL AGGRESSION, Hormones and behavior, 30(3), 1996, pp. 201-215
MODEL PREDICTIONS FOR ANTHELMINTIC RESISTANCE AMONGST HAEMONCHUS-CONTORTUS POPULATIONS IN SOUTHERN BRAZIL
Authors: ECHEVARRIA FAM GETTINBY G HAZELWOOD S
Citation: Fam. Echevarria et al., MODEL PREDICTIONS FOR ANTHELMINTIC RESISTANCE AMONGST HAEMONCHUS-CONTORTUS POPULATIONS IN SOUTHERN BRAZIL, Veterinary parasitology, 47(3-4), 1993, pp. 315-325
AI LEARN RHEUMATOLOGY - A COMPARATIVE-STUDY OF COMPUTER-ASSISTED-INSTRUCTION FOR RHEUMATOLOGY
Authors: BRIDGES AJ REID JC CUTTS JH HAZELWOOD S SHARP GC MITCHELL JA
Citation: Aj. Bridges et al., AI LEARN RHEUMATOLOGY - A COMPARATIVE-STUDY OF COMPUTER-ASSISTED-INSTRUCTION FOR RHEUMATOLOGY, Arthritis and rheumatism, 36(5), 1993, pp. 577-580
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