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Results: 1-17 |
Results: 17
ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS
Authors: KUMRA S KRASNEWICH D RAPOPORT JL
Citation: S. Kumra et al., ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS, Schizophrenia research, 29(1-2), 1998, pp. 141-141
BRIEF REPORT - ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS
Authors: KUMRA S WIGGS E KRASNEWICH D MECK J SMITH ACM BEDWELL J FERNANDEZ T JACOBSEN LK LENANE M RAPOPORT JL
Citation: S. Kumra et al., BRIEF REPORT - ASSOCIATION OF SEX-CHROMOSOME ANOMALIES WITH CHILDHOOD-ONSET PSYCHOTIC DISORDERS, Journal of the American Academy of Child and Adolescent Psychiatry, 37(3), 1998, pp. 292-296
NEUROLOGICAL COURSE AND COMPLICATIONS IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Authors: PEARL PL KRASNEWICH D GAILLARD WD WEINSTEIN SL CONRY JA VEZINA LG DUBOVSKY E KROHN KA PACKER RJ
Citation: Pl. Pearl et al., NEUROLOGICAL COURSE AND COMPLICATIONS IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Annals of neurology, 44(3), 1998, pp. 57-57
SPLENECTOMY IN GAUCHER-DISEASE - NEW MANAGEMENT DILEMMAS
Authors: KRASNEWICH D DIETRICH K BAUER L GINNS EI SIDRANSKY E
Citation: D. Krasnewich et al., SPLENECTOMY IN GAUCHER-DISEASE - NEW MANAGEMENT DILEMMAS, Blood, 91(8), 1998, pp. 3085-3087
CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME CORRELATION OF IN-VITRO 2(H-3)MANNOSE METABOLIC LABELING STUDIES WITH PHOSPHOMANNOMUTASE ACTIVITY (PMM) - PMM DETERMINED BY DIRECT ANALYSIS OF MANNOSE-1-PHOSPHATE TO MANNOSE-6-PHOSPHATE INTERCONVERSION
Authors: ORVISKY E STJOHN E PARKER M SIDRANSKY E MARTIN BM GINNS EI KRASNEWICH D
Citation: E. Orvisky et al., CARBOHYDRATE-DEFICIENT-GLYCOPROTEIN-SYNDROME CORRELATION OF IN-VITRO 2(H-3)MANNOSE METABOLIC LABELING STUDIES WITH PHOSPHOMANNOMUTASE ACTIVITY (PMM) - PMM DETERMINED BY DIRECT ANALYSIS OF MANNOSE-1-PHOSPHATE TO MANNOSE-6-PHOSPHATE INTERCONVERSION, Glycobiology, 7(7), 1997, pp. 92-92
PARTIAL TRISOMY 10P FROM MATERNAL PERICENTRIC-INVERSION WITH SEVERE NEUROLOGIC SEQUELAE
Authors: ANIKSTER Y GROPMAN A LEWANDA AF TIFFT C SCHONBERG S KRASNEWICH D
Citation: Y. Anikster et al., PARTIAL TRISOMY 10P FROM MATERNAL PERICENTRIC-INVERSION WITH SEVERE NEUROLOGIC SEQUELAE, American journal of human genetics, 61(4), 1997, pp. 500-500
PENA-SHOKEIR PHENOTYPE IN AN INFANT WITH 47,XYY
Authors: GRAF M COPENHEAVERHUNG D WEINSTEIN S CHANDRA S TIFFT C KRASNEWICH D
Citation: M. Graf et al., PENA-SHOKEIR PHENOTYPE IN AN INFANT WITH 47,XYY, American journal of human genetics, 61(4), 1997, pp. 553-553
AN ASSOCIATION BETWEEN SEX-CHROMOSOME ANOMALIES AND CHILDHOOD PSYCHOSIS
Authors: KUMRA S WIGGS E JACOBSEN LK KRASNEWICH D SMITH ACM MECK J BEDWELL J LENANE M RAPOPORT JL
Citation: S. Kumra et al., AN ASSOCIATION BETWEEN SEX-CHROMOSOME ANOMALIES AND CHILDHOOD PSYCHOSIS, American journal of human genetics, 61(4), 1997, pp. 741-741
GLUCOSYLSPHINGOSINE ACCUMULATION IN THE BRAIN, LIVER, AND SPLEEN OF TYPE-2 GAUCHER MICE
Authors: ORVISKY E MCKINNEY CE KRASNEWICH D ELIASON WK TAYEBI N MARTIN BM GINNS EI SIDRANSKY E
Citation: E. Orvisky et al., GLUCOSYLSPHINGOSINE ACCUMULATION IN THE BRAIN, LIVER, AND SPLEEN OF TYPE-2 GAUCHER MICE, American journal of human genetics, 61(4), 1997, pp. 1503-1503
ANALYSIS OF A PHOSPHOMANNOMUTASE-2 GENE IN AMERICAN PATIENTS WITH TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS)
Authors: TAYEBI N REISSNER K ORVISKY E EHLERT M MARTIN BM SIDRANSKY E GINNS EI KRASNEWICH D
Citation: N. Tayebi et al., ANALYSIS OF A PHOSPHOMANNOMUTASE-2 GENE IN AMERICAN PATIENTS WITH TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS), American journal of human genetics, 61(4), 1997, pp. 2041-2041
REACTIVITY OF A MONOCLONAL-ANTIBODY TO TRANSFERRINS FROM CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES
Authors: TUCKER L MAKHLOUF S DAVIS L KRASNEWICH D ANDERSON B
Citation: L. Tucker et al., REACTIVITY OF A MONOCLONAL-ANTIBODY TO TRANSFERRINS FROM CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROMES, The FASEB journal, 10(6), 1996, pp. 708-708
BIOCHEMICAL HETEROGENEITY IN TYPE-1 CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (CDGS)
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
HETEROZYGOSITY FOR AN EXON-12 SPLICING MUTATION AND A W234G MISSENSE MUTATION IN AN AMERICAN CHILD WITH CHRONIC TYROSINEMIA TYPE-1
Authors: HAHN SH KRASNEWICH D BRANTLY M KVITTINGEN EA GAHL WA
Citation: Sh. Hahn et al., HETEROZYGOSITY FOR AN EXON-12 SPLICING MUTATION AND A W234G MISSENSE MUTATION IN AN AMERICAN CHILD WITH CHRONIC TYROSINEMIA TYPE-1, Human mutation, 6(1), 1995, pp. 66-73
C-85 DOLICHOLS IN SLOUGHED RENAL-CELLS OF PATIENTS WITH HERMANSKY-PUDLAK SYNDROME (HPS)
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
TRANSLOCATION INVOLVING CHROMOSOME-1 AND CHROMOSOME-7 IN A BOY WITH CHILDHOOD-ONSET SCHIZOPHRENIA
Authors: GORDON CT KRASNEWICH D WHITE B LENANE M RAPOPORT JL
Citation: Ct. Gordon et al., TRANSLOCATION INVOLVING CHROMOSOME-1 AND CHROMOSOME-7 IN A BOY WITH CHILDHOOD-ONSET SCHIZOPHRENIA, Journal of autism and developmental disorders, 24(4), 1994, pp. 537-545
CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE
Authors: THEODOROPOULOS DS KRASNEWICH D KAISERKUPFER MI GAHL WA
Citation: Ds. Theodoropoulos et al., CLASSIC NEPHROPATHIC CYSTINOSIS AS AN ADULT DISEASE, JAMA, the journal of the American Medical Association, 270(18), 1993, pp. 2200-2204
REDOX, TRANSFERRIN-INDEPENDENT, AND RECEPTOR-MEDIATED ENDOCYTOSIS IRON UPTAKE SYSTEMS IN CULTURED HUMAN FIBROBLASTS
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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