AAAAAA

   
Results: 1-10 |
Results: 10
HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA
Authors: RUTLEDGE SL KISHNANI P OAKES J MILLER C LAGAE L JAEKEN J VANHOVE JLK
Citation: Sl. Rutledge et al., HYDROCEPHALUS IN NONKETOTIC HYPERGLYCINEMIA, Annals of neurology, 44(3), 1998, pp. 58-58
CAMPTOMELIC DYSPLASIA AND ACAMPTOMELIC CAMPTOMELIC DYSPLASIA - A CONTINUOUS-SPECTRUM
Authors: AHMAD A MILLER C GOLDSTEIN R KISHNANI P
Citation: A. Ahmad et al., CAMPTOMELIC DYSPLASIA AND ACAMPTOMELIC CAMPTOMELIC DYSPLASIA - A CONTINUOUS-SPECTRUM, American journal of human genetics, 61(4), 1997, pp. 496-496
CLINICAL AND LABORATORY FINDINGS IN 4 PATIENTS WITH THE NONPROGRESSIVE HEPATIC FORM OF TYPE-IV GLYCOGEN-STORAGE-DISEASE
Authors: MCCONKIEROSELL A WILSON C PICCOLI DA BOYLE J DECLUE T KISHNANI P SHEN JJ BONEY A BROWN B CHEN YT
Citation: A. Mcconkierosell et al., CLINICAL AND LABORATORY FINDINGS IN 4 PATIENTS WITH THE NONPROGRESSIVE HEPATIC FORM OF TYPE-IV GLYCOGEN-STORAGE-DISEASE, Journal of inherited metabolic disease, 19(1), 1996, pp. 51-58
DOUBLE MUTANT FIBRILLIN-1 (FBN1) ALLELE IN A PATIENT WITH NEONATAL MARFAN-SYNDROME
Authors: WANG M KISHNANI P DECKERPHILLIPS M KAHLER SG CHEN YT GODFREY M
Citation: M. Wang et al., DOUBLE MUTANT FIBRILLIN-1 (FBN1) ALLELE IN A PATIENT WITH NEONATAL MARFAN-SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 760-763
HEPATIC AND NEUROMUSCULAR FORMS OF GLYCOGEN-STORAGE-DISEASE TYPE-IV CAUSED BY MUTATIONS IN THE SAME GLYCOGEN-BRANCHING ENZYME GENE
Authors: BAO Y KISHNANI P WU JY CHEN YT
Citation: Y. Bao et al., HEPATIC AND NEUROMUSCULAR FORMS OF GLYCOGEN-STORAGE-DISEASE TYPE-IV CAUSED BY MUTATIONS IN THE SAME GLYCOGEN-BRANCHING ENZYME GENE, The Journal of clinical investigation, 97(4), 1996, pp. 941-948
BENZOATE THERAPY AND CARNITINE DEFICIENCY IN NONKETOTIC HYPERGLYCINEMIA
Authors: VANHOVE JLK KISHNANI P MUENZER J WENSTRUP RJ SUMMAR ML BRUMMOND MR LACHIEWICZ AM MILLINGTON DS KAHLER SG
Citation: Jlk. Vanhove et al., BENZOATE THERAPY AND CARNITINE DEFICIENCY IN NONKETOTIC HYPERGLYCINEMIA, American journal of medical genetics, 59(4), 1995, pp. 444-453
HEMANGIOMA, SUPRAUMBILICAL MIDLINE RAPHE, AND COARCTATION OF THE AORTA WITH A RIGHT AORTIC-ARCH - SINGLE CAUSAL ENTITY
Authors: KISHNANI P IAFOLLA AK MCCONKIEROSELL A VANHOVE JLK KANTER RJ KAHLER SG
Citation: P. Kishnani et al., HEMANGIOMA, SUPRAUMBILICAL MIDLINE RAPHE, AND COARCTATION OF THE AORTA WITH A RIGHT AORTIC-ARCH - SINGLE CAUSAL ENTITY, American journal of medical genetics, 59(1), 1995, pp. 44-48
MUTATION IN CANINE GLUCOSE-6-PHOSPHATASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-IA, GSD-IA)
Authors: KISHNANI P BAO Y WU JY BRIX AE CHEN YT
Citation: P. Kishnani et al., MUTATION IN CANINE GLUCOSE-6-PHOSPHATASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-IA, GSD-IA), Pediatric research, 37(4), 1995, pp. 149-149
HEPATIC AND NEUROMUSCULAR FORMS OF GLYCOGEN-STORAGE-DISEASE TYPE-IV ARE DUE TO MUTATIONS IN THE SAME GLYCOGEN BRANCHING ENZYME GENE
Authors: BAO Y KISHNANI P CHEN YT
Citation: Y. Bao et al., HEPATIC AND NEUROMUSCULAR FORMS OF GLYCOGEN-STORAGE-DISEASE TYPE-IV ARE DUE TO MUTATIONS IN THE SAME GLYCOGEN BRANCHING ENZYME GENE, American journal of human genetics, 57(4), 1995, pp. 37-37
UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 2Q - PHENOTYPE AND CLINICAL MANIFESTATIONS
Authors: KISHNANI P MCCONKIEROSELL A
Citation: P. Kishnani et A. Mcconkierosell, UNIQUE INTERSTITIAL DELETION OF CHROMOSOME 2Q - PHENOTYPE AND CLINICAL MANIFESTATIONS, American journal of human genetics, 53(3), 1993, pp. 464-464
Risultati: 1-10 |