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Results:
1-14
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Results: 14
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
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
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
Authors:
SHOTELERSUK V
LARSON D
ANIKSTER Y
MCDOWELL G
LEMONS R
BERNARDINI I
GUO JR
THOENE J
GAHL WA
Citation: V. Shotelersuk et al., CTNS MUTATIONS IN AN AMERICAN-BASED POPULATION OF CYSTINOSIS PATIENTS, American journal of human genetics, 63(5), 1998, pp. 1352-1362
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
Authors:
KRASNEWICH D
BERNARDINI I
ROUHANI F
BRANTLY M
HOLT G
GAHL W
Citation: D. Krasnewich et al., BIOCHEMICAL HETEROGENEITY IN TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS), Pediatric research, 39(4), 1996, pp. 864-864
Authors:
POTTERF SB
MULLER J
BERNARDINI I
TIETZE F
KOBAYASHI T
HEARING VJ
GAHL WA
Citation: Sb. Potterf et al., CHARACTERIZATION OF A MELANOSOMAL TRANSPORT-SYSTEM IN MURINE MELANOCYTES MEDIATING ENTRY OF THE MELANOGENIC SUBSTRATE TYROSINE, The Journal of biological chemistry, 271(8), 1996, pp. 4002-4008
Authors:
GAHL WA
INGELFINGER J
MOHAN P
BERNARDINI I
HYMAN PE
TANGERMAN A
Citation: Wa. Gahl et al., INTRAVENOUS CYSTEAMINE THERAPY FOR NEPHROPATHIC CYSTINOSIS, Pediatric research, 38(4), 1995, pp. 579-584
Authors:
GAHL W
GUO J
KRASNEWICH D
BERNARDINI I
HOLT G
Citation: W. Gahl et al., C-85 DOLICHOLS IN SLOUGHED RENAL-CELLS OF PATIENTS WITH HERMANSKY-PUDLAK SYNDROME (HPS), American journal of human genetics, 57(4), 1995, pp. 1022-1022
Authors:
DALAKAS MC
LEONMONZON ME
BERNARDINI I
GAHL WA
JAY CA
Citation: Mc. Dalakas et al., ZIDOVUDINE-INDUCED MITOCHONDRIAL MYOPATHY IS ASSOCIATED WITH MUSCLE CARNITINE DEFICIENCY AND LIPID STORAGE, Annals of neurology, 35(4), 1994, pp. 482-487
Authors:
CHARNAS LR
LUCIANO CA
DALAKAS M
GILLIATT RW
BERNARDINI I
ISHAK K
CWIK VA
FRAKER D
BRUSHART TA
GAHL WA
Citation: Lr. Charnas et al., DISTAL VACUOLAR MYOPATHY IN NEPHROPATHIC CYSTINOSIS, Annals of neurology, 35(2), 1994, pp. 181-188
Authors:
HIGGINS JJ
KANESKI CR
BERNARDINI I
BRADY RO
BARTON NW
Citation: Jj. Higgins et al., PYRIDOXINE-RESPONSIVE HYPER-BETA-ALANINEMIA ASSOCIATED WITH COHENS SYNDROME, Neurology, 44(9), 1994, pp. 1728-1732
Authors:
GAHL WA
BERNARDINI I
TIETZE F
KOHN LD
Citation: Wa. Gahl et al., EFFECTS OF CYCLOHEXIMIDE AND TUNICAMYCIN ON LYSOSOMAL CYSTINE TRANSPORT IN RAT FRTL-5 CELLS, Biochemical medicine and metabolic biology, 49(2), 1993, pp. 243-254
Authors:
OSHIRO S
NAKAJIMA H
MARKELLO T
KRASNEWICH D
BERNARDINI I
GAHL WA
Citation: S. Oshiro et al., REDOX, TRANSFERRIN-INDEPENDENT, AND RECEPTOR-MEDIATED ENDOCYTOSIS IRON UPTAKE SYSTEMS IN CULTURED HUMAN FIBROBLASTS, The Journal of biological chemistry, 268(29), 1993, pp. 21586-21591
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1-14
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