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Results: 1-25 | 26-50 | 51-57 |
Results: 51-57/57
FAMILIAL COLD URTICARIA
Authors: ZIP CM ROSS JB GREAVES MW SCRIVER CR MITCHELL JJ ZOAR S
Citation: Cm. Zip et al., FAMILIAL COLD URTICARIA, Clinical and experimental dermatology, 18(4), 1993, pp. 338-341
CHILD HEALTH THE GENOME PROJECT AND PHENYLKETONURIA
Authors: SCRIVER CR
Citation: Cr. Scriver, CHILD HEALTH THE GENOME PROJECT AND PHENYLKETONURIA, Turkish Journal of Pediatrics, 35(3), 1993, pp. 227-237
CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA WITH REDUCED MUSCLE PHOSPHORYLATION POTENTIAL - AN MRI MRS-PHENOTYPE DIAGNOSTIC OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY/
Authors: SHEVELL MI ARNOLD DL MATTHEWS PM BROWN RM BROWN GK SCRIVER CR
Citation: Mi. Shevell et al., CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA WITH REDUCED MUSCLE PHOSPHORYLATION POTENTIAL - AN MRI MRS-PHENOTYPE DIAGNOSTIC OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY/, Neurology, 43(4), 1993, pp. 283-283
MAGNETIC-RESONANCE SPECTROSCOPY IN NIEMANN-PICK DISEASE TYPE-C - CORRELATION WITH DIAGNOSIS AND CLINICAL-RESPONSE TO TREATMENT WITH CHOLESTYRAMINE AND LOVASTATIN
Authors: SYLVAIN M ARNOLD DL SCRIVER CR SHEVELL MI
Citation: M. Sylvain et al., MAGNETIC-RESONANCE SPECTROSCOPY IN NIEMANN-PICK DISEASE TYPE-C - CORRELATION WITH DIAGNOSIS AND CLINICAL-RESPONSE TO TREATMENT WITH CHOLESTYRAMINE AND LOVASTATIN, Neurology, 43(4), 1993, pp. 347-347
WHAT YOUNG-PEOPLE THINK AND DO WHEN THE OPTION FOR CYSTIC-FIBROSIS CARRIER TESTING IS AVAILABLE
Authors: MITCHELL J SCRIVER CR CLOW CL KAPLAN F
Citation: J. Mitchell et al., WHAT YOUNG-PEOPLE THINK AND DO WHEN THE OPTION FOR CYSTIC-FIBROSIS CARRIER TESTING IS AVAILABLE, Journal of Medical Genetics, 30(7), 1993, pp. 538-542
PARENTAL ORIGIN OF MUTANT ALLELE DOES NOT EXPLAIN ABSENCE OF GENE DOSE IN X-LINKED HYP MICE
Authors: QIU ZQ TENENHOUSE HS SCRIVER CR
Citation: Zq. Qiu et al., PARENTAL ORIGIN OF MUTANT ALLELE DOES NOT EXPLAIN ABSENCE OF GENE DOSE IN X-LINKED HYP MICE, Genetical Research, 62(1), 1993, pp. 39-43
IDENTIFICATION OF 3 NOVEL ALLELES CAUSING PROLIDASE DEFICIENCY
Authors: LEDOUX P SCRIVER CR HECHTMAN P
Citation: P. Ledoux et al., IDENTIFICATION OF 3 NOVEL ALLELES CAUSING PROLIDASE DEFICIENCY, American journal of human genetics, 53(3), 1993, pp. 919-919
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