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Results: 1-7 |
Results: 7
X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY (CMTX) - NEW MUTATIONS IN THE CONNEXIN32 GENE
Authors: RESSOT C LATOUR P BLANQUETGROSSARD F STURTZ F DUTHEL S BATTIN J CORBILLON E OLLAGNON E SERVILLE F VANDENBERGHE A DAUTIGNY A PHAMDINH D
Citation: C. Ressot et al., X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY (CMTX) - NEW MUTATIONS IN THE CONNEXIN32 GENE, Human genetics, 98(2), 1996, pp. 172-175
MOLECULAR DIAGNOSIS OF CHARCOT-MARIE-TOOTH IA DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES BY QUANTIFYING CMTIA-REPSEQUENCES - CONSEQUENCES OF RECOMBINATIONS AT VARIANT SITES ON CHROMOSOME 17P11.2-12
Authors: VANDENBERGHE A LATOUR P CHAUPLANNAZ G CHAPON F POUGET J DUMAS R LAGUENAY A OLLAGNON E BOST M DUTHEL S CHAZOT G BOUCHERAT M
Citation: A. Vandenberghe et al., MOLECULAR DIAGNOSIS OF CHARCOT-MARIE-TOOTH IA DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES BY QUANTIFYING CMTIA-REPSEQUENCES - CONSEQUENCES OF RECOMBINATIONS AT VARIANT SITES ON CHROMOSOME 17P11.2-12, Clinical chemistry, 42(7), 1996, pp. 1021-1025
GENETIC-HETEROGENEITY IN NIEMANN-PICK-C-DISEASE - A STUDY USING SOMATIC-CELL HYBRIDIZATION AND LINKAGE ANALYSIS
Authors: VANIER MT DUTHEL S RODRIGUEZLAFRASSE C PENTCHEV P CARSTEA ED
Citation: Mt. Vanier et al., GENETIC-HETEROGENEITY IN NIEMANN-PICK-C-DISEASE - A STUDY USING SOMATIC-CELL HYBRIDIZATION AND LINKAGE ANALYSIS, American journal of human genetics, 58(1), 1996, pp. 118-125
COMPETITIVE ELISA TO EVALUATE THE IMMUNOGENICITY OF DOUBLE-VIRUS-INACTIVATED FACTOR-VIII IN RABBITS
Authors: VERDIER F DUTHEL S PAULMIER P POPLAVSKY JL DESCOTES J
Citation: F. Verdier et al., COMPETITIVE ELISA TO EVALUATE THE IMMUNOGENICITY OF DOUBLE-VIRUS-INACTIVATED FACTOR-VIII IN RABBITS, Blood coagulation & fibrinolysis, 6, 1995, pp. 62-64
DUPLICATIONS AND DELETIONS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - A REFINED MUTATION MODEL
Authors: VANDENBERGHE A DUTHEL S BOST M BONNEBOUCHE C BOUCHERAT M CHAZOT G LATOUR P
Citation: A. Vandenberghe et al., DUPLICATIONS AND DELETIONS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - A REFINED MUTATION MODEL, American journal of human genetics, 57(4), 1995, pp. 1335-1335
DELETION OF ARGININE (608) IN ACID SPHINGOMYELINASE IS THE PREVALENT MUTATION AMONG NIEMANN-PICK DISEASE TYPE-B PATIENTS FROM NORTHERN AFRICA
Authors: VANIER MT FERLINZ K ROUSSON R DUTHEL S LOUISOT P SANDHOFF K SUZUKI K
Citation: Mt. Vanier et al., DELETION OF ARGININE (608) IN ACID SPHINGOMYELINASE IS THE PREVALENT MUTATION AMONG NIEMANN-PICK DISEASE TYPE-B PATIENTS FROM NORTHERN AFRICA, Human genetics, 92(4), 1993, pp. 325-330
GLYCAN MICROHETEROGENEITY OF ALPHA-1-ANTITRYPSIN IN SERUM AND MECONIUM FROM NORMAL AND CYSTIC-FIBROSIS PATIENTS BY CROSSED IMMUNOAFFINOELECTROPHORESIS WITH DIFFERENT LECTINS (CON A, LCA, WGA)
Authors: DUTHEL S REVOL A
Citation: S. Duthel et A. Revol, GLYCAN MICROHETEROGENEITY OF ALPHA-1-ANTITRYPSIN IN SERUM AND MECONIUM FROM NORMAL AND CYSTIC-FIBROSIS PATIENTS BY CROSSED IMMUNOAFFINOELECTROPHORESIS WITH DIFFERENT LECTINS (CON A, LCA, WGA), Clinica chimica acta, 215(2), 1993, pp. 173-187
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