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Results: 1-10 |
Results: 10
MOLECULAR ANALYSIS AND CLINICAL FINDINGS IN THE SPANISH GAUCHER-DISEASE POPULATION - PUTATIVE HAPLOTYPE OF THE N370S ANCESTRAL CHROMOSOME
Authors: CORMAND B GRINBERG D GORT L CHABAS A VILAGELIU L
Citation: B. Cormand et al., MOLECULAR ANALYSIS AND CLINICAL FINDINGS IN THE SPANISH GAUCHER-DISEASE POPULATION - PUTATIVE HAPLOTYPE OF THE N370S ANCESTRAL CHROMOSOME, Human mutation, 11(4), 1998, pp. 295-305
RELIABLE CO-SEGREGATION ANALYSIS FOR PRENATAL-DIAGNOSIS AND HETEROZYGOTE DETECTION IN GAUCHER-DISEASE
Authors: CORMAND B MONTFORT M CHABAS A GRINBERG D VILAGELIU L
Citation: B. Cormand et al., RELIABLE CO-SEGREGATION ANALYSIS FOR PRENATAL-DIAGNOSIS AND HETEROZYGOTE DETECTION IN GAUCHER-DISEASE, Prenatal diagnosis, 18(3), 1998, pp. 207-212
MUSCLE-EYE-BRAIN DISEASE (MEB) - CLINICAL HETEROGENEITY AND PROVISIONAL MAPPING OF THE GENE
Authors: PIHKO H CORMAND B SANTAVUORI P LEHESJOKI AE
Citation: H. Pihko et al., MUSCLE-EYE-BRAIN DISEASE (MEB) - CLINICAL HETEROGENEITY AND PROVISIONAL MAPPING OF THE GENE, Neurology, 50(4), 1998, pp. 1040-1040
GENETIC FINE LOCALIZATION OF THE BETA-GLUCOCEREBROSIDASE (GBA) AND PROSAPOSIN (PSAP) GENES - IMPLICATIONS FOR GAUCHER-DISEASE
Authors: CORMAND B MONTFORT M CHABAS A VILAGELIU L GRINBERG D
Citation: B. Cormand et al., GENETIC FINE LOCALIZATION OF THE BETA-GLUCOCEREBROSIDASE (GBA) AND PROSAPOSIN (PSAP) GENES - IMPLICATIONS FOR GAUCHER-DISEASE, Human genetics, 100(1), 1997, pp. 75-79
2 NEW MILD HOMOZYGOUS MUTATIONS IN GAUCHER-DISEASE PATIENTS - CLINICAL SIGNS AND BIOCHEMICAL ANALYSES
Authors: CORMAND B GRINBERG D GORT L FIUMARA A BARONE R VILAGELIU L CHABAS A
Citation: B. Cormand et al., 2 NEW MILD HOMOZYGOUS MUTATIONS IN GAUCHER-DISEASE PATIENTS - CLINICAL SIGNS AND BIOCHEMICAL ANALYSES, American journal of medical genetics, 70(4), 1997, pp. 437-443
2 NOVEL (1098INSA AND Y313H) AND ONE RARE (R359Q) MUTATIONS DETECTED IN EXON-8 OF THE BETA-GLUCOCEREBROSIDASE GENE IN GAUCHERS-DISEASE PATIENTS
Authors: CORMAND B VILAGELIU L BALCELLS S GONZALEZDUARTE R CHABAS A GRINBERG D
Citation: B. Cormand et al., 2 NOVEL (1098INSA AND Y313H) AND ONE RARE (R359Q) MUTATIONS DETECTED IN EXON-8 OF THE BETA-GLUCOCEREBROSIDASE GENE IN GAUCHERS-DISEASE PATIENTS, Human mutation, 7(3), 1996, pp. 272-274
NEURONOPATHIC AND NON-NEURONOPATHIC PRESENTATION OF GAUCHER DISEASE IN PATIENTS WITH THE 3RD MOST COMMON MUTATION (D409H) IN SPAIN
Authors: CHABAS A CORMAND B BALCELLS S GONZALEZDUARTE R CASANOVA C COLOMER J VILAGELIU L GRINBERG D
Citation: A. Chabas et al., NEURONOPATHIC AND NON-NEURONOPATHIC PRESENTATION OF GAUCHER DISEASE IN PATIENTS WITH THE 3RD MOST COMMON MUTATION (D409H) IN SPAIN, Journal of inherited metabolic disease, 19(6), 1996, pp. 798-800
GAUCHER DISEASE IN SPANISH PATIENTS - ANALYSIS OF 8 MUTATIONS
Authors: CORMAND B VILAGELIU L BURGUERA JM BALCELLS S GONZALEZDUARTE R GRINBERG D CHABAS A
Citation: B. Cormand et al., GAUCHER DISEASE IN SPANISH PATIENTS - ANALYSIS OF 8 MUTATIONS, Human mutation, 5(4), 1995, pp. 303-309
UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION
Authors: CHABAS A CORMAND B GRINBERG D BURGUERA JM BALCELLS S MERINO JL MATE I SOBRINO JA GONZALEZDUARTE R VILAGELIU L
Citation: A. Chabas et al., UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION, Journal of Medical Genetics, 32(9), 1995, pp. 740-742
ETS TRANSCRIPTION FACTORS REGULATE THE EXPRESSION OF THE GENE FOR THEHUMAN MITOCHONDRIAL ATP SYNTHASE BETA-SUBUNIT
Authors: VILLENA JA MARTIN I VINAS O CORMAND B IGLESIAS R MAMPEL T GIRALT M VILLARROYA F
Citation: Ja. Villena et al., ETS TRANSCRIPTION FACTORS REGULATE THE EXPRESSION OF THE GENE FOR THEHUMAN MITOCHONDRIAL ATP SYNTHASE BETA-SUBUNIT, The Journal of biological chemistry, 269(51), 1994, pp. 32649-32654
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