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La ricerca find articoli where authors phrase all words ' SIMONBOUY B' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 14 riferimenti
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    1. MORNET E; TAILLANDIER A; PEYRAMAURE S; KAPER F; MULLER F; BRENNER R; BUSSIERE P; FREISINGER P; GODARD J; LEMERRER M; OURY JF; PLAUCHU H; PUDDU R; RIVAL JM; SUPERTIFURGA A; TOURAINE RL; SERRE JL; SIMONBOUY B
      IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA

      European journal of human genetics
    2. MORNET E; TAILLANDIER A; PEYRAMAURE S; KAPER F; MULLER F; SERRE JL; SIMONBOUY B
      IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE GENE IN EUROPEAN PATIENTS WITH HYPOPHOSPHATASIA

      European journal of human genetics
    3. MULLER F; DOMMERGUES M; SIMONBOUY B; FEREC C; OURY JF; AUBRY MC; BESSIS R; VUILLARD E; DENAMUR E; BIENVENU T; SERRE JL
      CYSTIC-FIBROSIS SCREENING - A FETUS WITH HYPERECHOGENIC BOWEL MAY BE THE INDEX CASE

      Journal of Medical Genetics
    4. MORNET E; CHATEAU C; SIMONBOUY B; SERRE JL
      THE INTERMEDIATE ALLELES OF THE FRAGILE-X CGG REPEAT IN PATIENTS WITHMENTAL-RETARDATION

      Clinical genetics
    5. ESTIVILL X; BANCELLS C; RAMOS C; PIAZZA A; CARBONARA A; MASTELLA G; BONIZZATO A; CASTALDI G; DALCAMO E; FERRARI M; GASPARINI P; GUANTI G; LEONI GB; PIGNATTI PF; RONCHETTO P; SEIA M; TORRICELLI F; GOOSSENS M; CHEVALIERPORST F; BOZON D; SIMONBOUY B; FELDMANN D; ELION J; KAPLAN JC; FEREC C; CLAUSTRES M; CLAVEL C; PUCHELLE E; LUNARDI J; MATHIEU M; SCHEFFER H; HALLEY DJJ; VANDENOUWELAND AMW; TIJMENSEN ASLN; CASALS T; GIMENEZ FJ; RAMOS L; BENEYTO M; BENITEZ J; PALACIO A; TUMMLER B; BAUER I; MEITINGER T; CLAASS A; LINDNER M; SCHRODER E; STUHRMANN M; CASSIMAN J; CUPPENS H; COCHAUX P; PONCIN J; MESSIAN L; BARANOV VS; IVASCHENKO TE; BAKAY M; BAL J; WITT M; KANAVAKIS M; TZETIS M; ANTONIADI T; LAVINHA J; PACHECO P; DUARTE A; LOUREIRO P; KALAYDJIEVA L; ANGELICHEVA D; JORDANOVA A; SAVOV A; EIKLID K; HOLMBERG L; SCHAEDEL C; OZGUC M; GOCMEN A; ERDERN H; LIECHTIGALLATI S; NEMETI M; FEKETE G; KLAASSEN T; SCHWARZ M; SCHWARTZ M; MACEK M; MACEK M; KREBSOVA A; VAVROVA V; KEREM B; AVELIOVICH D; FERAK V; KADASI L; KAYSEROVA H; GLAVAC D; RAVNIKGLAVAC M; EFREMOV GD; CANKIKLEIN N; KERE J
      GEOGRAPHIC-DISTRIBUTION AND REGIONAL ORIGIN OF 272 CYSTIC-FIBROSIS INEUROPEAN POPULATIONS

      Human mutation
    6. MORNET E; MULLER F; LENVOISEFURET A; DELEZOIDE AL; COL JY; SIMONBOUY B; SERRE JL
      SCREENING OF THE C677T MUTATION ON THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IN FRENCH PATIENTS WITH NEURAL-TUBE DEFECTS

      Human genetics
    7. MORNET E; SIMONBOUY B
      MOLECULAR-BIOLOGY OF FRAGILE-X SYNDROME - APPLICATIONS TO GENETIC-COUNSELING AND MOLECULAR DIAGNOSIS

      Archives de pediatrie
    8. MORNET E; CHATEAU C; TAILLANDIER A; SIMONBOUY B; SERRE JL
      RECURRENT AND UNEXPECTED SEGREGATION OF THE FMR1 CGG REPEAT IN A FAMILY WITH FRAGILE-X SYNDROME

      Human genetics
    9. TURLEAU C; SIMONBOUY B; AUSTRUY E; GRISARD MC; LEMAIRE F; MOLINAGOMES D; SIFFROI JP; BOUE J
      PARENTAL ORIGIN AND MECHANISMS OF FORMATION OF 3 CASES OF 12P TETRASOMY

      Clinical genetics
    10. BARBAT B; BOGYO A; RAUXDEMAY MC; KUTTENN F; BOUE J; SIMONBOUY B; SERRE JL; BOUE A; MORNET E
      SCREENING OF CYP21 GENE-MUTATIONS IN 129 FRENCH PATIENTS AFFECTED BY STEROID 21-HYDROXYLASE DEFICIENCY

      Human mutation
    11. MULLER F; DOMMERGUES M; AUBRY MC; SIMONBOUY B; GAUTIER E; OURY JF; NARCY F
      HYPERECHOGENIC FETAL BOWEL - AN ULTRASONOGRAPHIC MARKER FOR ADVERSE FETAL AND NEONATAL OUTCOME

      American journal of obstetrics and gynecology
    12. MORNET E; CHATEAU C; TAILLANDIER A; MONTAGNON M; SIMONBOUY B; SERRE JL; BOUE A
      FRAXAC2 INSTABILITY

      Nature genetics
    13. CLOT F; JAGER M; SIMONBOUY B; SERRE JL; AUPETITFAISANT B; MORNET E
      A POLYMORPHIC POLY-A SEQUENCE IN THE 5' REGION OF THE ALDOSYNTHASE (CYP11B2) GENE MAY BE USEFUL IN GENETIC DIAGNOSIS OF 11-BETA-HYDROXYLASEGENES DEFECTS

      Human genetics
    14. MORNET E; BOGYO A; DELUCHAT C; SIMONBOUY B; MATHIEU M; THEPOT F; GRISARD MC; LEGUERN E; BOUE J; BOUE A
      MOLECULAR ANALYSIS OF A RING CHROMOSOME-X IN A FAMILY WITH FRAGILE-X SYNDROME

      Human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/06/20 alle ore 12:30:45