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Results: 1-12 |
Results: 12
PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS
Authors: MAUGARD C TUFFERY S AGUILARMARTINEZ P SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS, Human mutation, 11(1), 1998, pp. 18-22
PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS
Authors: MAUGARD C TUFFERY S AGUILARMARTINEZ P SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., PROTEIN TRUNCATION TEST - DETECTION OF SEVERE HEMOPHILIA-A MUTATION AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS, Human mutation, 11(1), 1998, pp. 18-22
SEVERE HEMOPHILIA-A IN SOUTHERN FRANCE - DETECTION OF 3 NOVEL MUTATIONS AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS
Authors: MAUGARD C TUFFERY S AGUILARMARTINEZ P GRIS JC SCHVED JF DEMAILLE J CLAUSTRES M
Citation: C. Maugard et al., SEVERE HEMOPHILIA-A IN SOUTHERN FRANCE - DETECTION OF 3 NOVEL MUTATIONS AND ANALYSIS OF FACTOR-VIII TRANSCRIPTS, Thrombosis and haemostasis, 1997, pp. 927-927
DIAGNOSIS STRATEGIES IN ACTIVATED PROTEIN-C RESISTANCE - IS GENOTYPING STILL NECESSARY
Authors: BIRON C LAMARTI H SCHVED JF JEANJEAN P MASMEJEAN C CLAUSTRES M AGUILARMARTINEZ P
Citation: C. Biron et al., DIAGNOSIS STRATEGIES IN ACTIVATED PROTEIN-C RESISTANCE - IS GENOTYPING STILL NECESSARY, Clinical and laboratory haematology, 19(1), 1997, pp. 67-71
HEMOSTASIS PARAMETERS DURING OVARIAN STIMULATION FOR IN-VITRO FERTILIZATION - RESULTS OF A PROSPECTIVE-STUDY
Authors: BIRON C GALTIERDEREURE F RABESANDRATANA H BERNARD I AGUILARMARTINEZ P SCHVED JF HEDON B
Citation: C. Biron et al., HEMOSTASIS PARAMETERS DURING OVARIAN STIMULATION FOR IN-VITRO FERTILIZATION - RESULTS OF A PROSPECTIVE-STUDY, Fertility and sterility, 67(1), 1997, pp. 104-109
A NOVEL MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNITGENE AS A CAUSE FOR HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME
Authors: AGUILARMARTINEZ P BIRON C MASMEJEAN C JEANJEAN P SCHVED JF
Citation: P. Aguilarmartinez et al., A NOVEL MUTATION IN THE IRON-RESPONSIVE ELEMENT OF FERRITIN L-SUBUNITGENE AS A CAUSE FOR HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME, Blood, 88(5), 1996, pp. 1895-1895
DIAGNOSIS STRATEGIES IN APC RESISTANCE - IS GENOTYPING STILL NECESSARY
Authors: SCHVED JF BIRON C LAMARTI H JEANJEAN P MASMEJEAN C AGUILARMARTINEZ P
Citation: Jf. Schved et al., DIAGNOSIS STRATEGIES IN APC RESISTANCE - IS GENOTYPING STILL NECESSARY, Blood, 88(10), 1996, pp. 686-686
A NOVEL MUTATION (VAL-373 TO GLU) IN THE CATALYTIC DOMAIN OF FACTOR-IX, RESULTING IN MODERATELY SEVERE HEMOPHILIA-B IN A SOUTHERN FRENCH PATIENT
Authors: AGUILARMARTINEZ P ROMEY MC GRIS JC SCHVED JF DEMAILLE J CLAUSTRES M
Citation: P. Aguilarmartinez et al., A NOVEL MUTATION (VAL-373 TO GLU) IN THE CATALYTIC DOMAIN OF FACTOR-IX, RESULTING IN MODERATELY SEVERE HEMOPHILIA-B IN A SOUTHERN FRENCH PATIENT, Human mutation, 3(2), 1994, pp. 156-158
FACTOR-IX GENE-MUTATIONS CAUSING HEMOPHILIA-B - COMPARISON OF SSC SCREENING VERSUS SYSTEMATIC DNA-SEQUENCING AND DIAGNOSTIC APPLICATIONS
Authors: AGUILARMARTINEZ P ROMEY MC SCHVED JF GRIS JC DEMAILLE J CLAUSTRES M
Citation: P. Aguilarmartinez et al., FACTOR-IX GENE-MUTATIONS CAUSING HEMOPHILIA-B - COMPARISON OF SSC SCREENING VERSUS SYSTEMATIC DNA-SEQUENCING AND DIAGNOSTIC APPLICATIONS, Human genetics, 94(3), 1994, pp. 287-290
COMPARISON OF THE PROTEIN AND DNA APPROACHES FOR THE CHARACTERIZATIONOF A BETA-GLOBIN CHAIN VARIANT, HEMOGLOBIN COCODY [BETA-21 (B3) ASP-]ASN], IN A CAUCASIAN PATIENT
Authors: AGUILARMARTINEZ P GALACTEROS F SCHVED JF BLOUQUIT Y GRIS JC DEMAILLE J CLAUSTRES M
Citation: P. Aguilarmartinez et al., COMPARISON OF THE PROTEIN AND DNA APPROACHES FOR THE CHARACTERIZATIONOF A BETA-GLOBIN CHAIN VARIANT, HEMOGLOBIN COCODY [BETA-21 (B3) ASP-]ASN], IN A CAUCASIAN PATIENT, Annals of hematology, 66(5), 1993, pp. 269-272
RAPID DETECTION OF SINGLE NUCLEOTIDE DELETIONS - APPLICATION TO THE BETA-6(-A) MUTATION OF THE BETA-GLOBIN GENE AND TO CYSTIC-FIBROSIS
Authors: ROMEY MC AGUILARMARTINEZ P DEMAILLE J CLAUSTRES M
Citation: Mc. Romey et al., RAPID DETECTION OF SINGLE NUCLEOTIDE DELETIONS - APPLICATION TO THE BETA-6(-A) MUTATION OF THE BETA-GLOBIN GENE AND TO CYSTIC-FIBROSIS, Human genetics, 92(6), 1993, pp. 627-628
PREVALENCE OF BETA-THALASSEMIA TRAIT IN THE GARD REGION OF SOUTHERN FRANCE
Authors: MAUGARD C AGUILARMARTINEZ P GRIS JC ARNAUD A LALLOYER N SCHVED JF
Citation: C. Maugard et al., PREVALENCE OF BETA-THALASSEMIA TRAIT IN THE GARD REGION OF SOUTHERN FRANCE, Annales de medecine interne, 144(2), 1993, pp. 83-84
Risultati: 1-12 |