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Results: 1-11 |
Results: 11

Authors: VARRET M RABES JP THIART R KOTZE MJ BARON H CENARRO A DESCAMPS O EBHARDT M HONDELIJN JC KOSTNER GM MIYAKE Y POCOVI M SCHMIDT H SCHMIDT H SCHUSTER H STUHRMANN M YAMAMURA T JUNIEN C BEROUD C BOILEAU C
Citation: M. Varret et al., LDLR DATABASE (2ND EDITION) - NEW ADDITIONS TO THE DATABASE AND THE SOFTWARE, AND RESULTS OF THE FIRST MOLECULAR ANALYSIS, Nucleic acids research, 26(1), 1998, pp. 248-252

Authors: RABES JP VARRET M SAINTJORE B ERLICH D JONDEAU G KREMPF M GIRAUDET P JUNIEN C BOILEAU C
Citation: Jp. Rabes et al., FAMILIAL LIGAND-DEFECTIVE APOLIPOPROTEIN B-100 - SIMULTANEOUS DETECTION OF THE ARG(3500)-]GLN AND ARG(3531)-]CYS MUTATIONS IN A FRENCH POPULATION, Human mutation, 10(2), 1997, pp. 160-163

Authors: VARRET M RABES JP BOILEAU C
Citation: M. Varret et al., FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .1. LDL RECEPTOR DEFECTS, MS. Medecine sciences, 13(12), 1997, pp. 1399-1408

Authors: RABES JP VARRET M BOILEAU C
Citation: Jp. Rabes et al., FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .2. FORMS WITH NORMAL LDL RECEPTOR, MS. Medecine sciences, 13(12), 1997, pp. 1409-1418

Authors: VARRET M RABES JP COLLODBEROUD G JUNIEN C BOILEAU C BEROUD C
Citation: M. Varret et al., SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE, Nucleic acids research, 25(1), 1997, pp. 172-180

Authors: VARRET M RABES JP COLLODBEROUD G JUNIEN C BEROUD C BOILEAU C
Citation: M. Varret et al., RESULTS OF THE MOLECULAR ANALYSIS OF THE 220 POINT MUTATIONS IN THE HUMAN LDL RECEPTOR GENE DATABASE, Atherosclerosis, 134(1-2), 1997, pp. 74-74

Authors: RABES JP TROSSAERT M CONARD J SAMAMA M GIRAUDET P BOILEAU C
Citation: Jp. Rabes et al., SINGLE-POINT MUTATION AT ARG(506) OF FACTOR-V ASSOCIATED WITH APC RESISTANCE AND VENOUS THROMBOEMBOLISM - IMPROVED DETECTION BY PCR-MEDIATED SITE-DIRECTED MUTAGENESIS, Thrombosis and haemostasis, 74(5), 1995, pp. 1379-1380

Authors: VARRET M RABES JP SAINTJORE B MARINONI JC KREMPF M EHRLICH D BONAITI C JUNIEN C BOILEAU C
Citation: M. Varret et al., TOWARDS THE IDENTIFICATION OF A 3RD GENE INVOLVED IN FAMILIAL TYPE IIA HYPERCHOLESTEROLEMIA BY EXCLUSION MAPPING IN 2 FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1901-1901

Authors: LAVEDAN C HOFMANNRADVANYI H BOILEAU C BONAITIPELLIE C SAVOY D SHELBOURNE P DUROS C RABES JP DEHAUPAS I LUCE S JOHNSON K JUNIEN C
Citation: C. Lavedan et al., FRENCH MYOTONIC-DYSTROPHY FAMILIES SHOW EXPANSION OF A CTG REPEAT IN COMPLETE LINKAGE DISEQUILIBRIUM WITH AN INTRAGENIC 1 KB INSERTION, Journal of Medical Genetics, 31(1), 1994, pp. 33-36

Authors: HOFMANNRADVANYI H LAVEDAN C RABES JP SAVOY D DUROS C JOHNSON K JUNIEN C
Citation: H. Hofmannradvanyi et al., MYOTONIC-DYSTROPHY - ABSENCE OF CTG ENLARGED TRANSCRIPT IN CONGENITALFORMS, AND LOW EXPRESSION OF THE NORMAL ALLELE, Human molecular genetics, 2(8), 1993, pp. 1263-1266

Authors: LAVEDAN C HOFMANNRADVANYI H SHELBOURNE P RABES JP DUROS C SAVOY D DEHAUPAS I LUCE S JOHNSON K JUNIEN C
Citation: C. Lavedan et al., MYOTONIC-DYSTROPHY - SIZE-DEPENDENT AND SEX-DEPENDENT DYNAMICS OF CTGMEIOTIC INSTABILITY, AND SOMATIC MOSAICISM, American journal of human genetics, 52(5), 1993, pp. 875-883
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