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La ricerca find articoli where authors phrase all words ' BRAVERMAN N' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 21 riferimenti
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    1. Matsumoto, N; Tamura, S; Moser, A; Moser, HW; Braverman, N; Suzuki, Y; Shimozawa, N; Kondo, N; Fujiki, Y
      The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6

      JOURNAL OF HUMAN GENETICS
    2. Braverman, N; Steel, G; Lin, P; Moser, A; Moser, H; Valle, D
      PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter

      GENOMICS
    3. Braverman, N; Lin, P; Moebius, FF; Obie, C; Moser, A; Glossmann, H; Wilcox, WR; Rimoin, DL; Smith, M; Kratz, L; Kelley, RI; Valle, D
      Mutations in the gene encoding 3 beta-hydroxysteroid-Delta(8),Delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome

      NATURE GENETICS
    4. BRAVERMAN N; DODT G; GOULD SJ; VALLE D
      AN ISOFORM OF PEX5P, THE HUMAN PTS1 RECEPTOR, IS REQUIRED FOR THE IMPORT OF PTS2 PROTEINS INTO PEROXISOMES

      Human molecular genetics (Print)
    5. BRAVERMAN N; STEEL G; OBIE C; MOSER A; MOSER H; GOULD SJ; VALLE D
      HUMAN PEX7 ENCODES THE PEROXISOMAL PTS2 RECEPTOR AND IS RESPONSIBLE FOR RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

      Nature genetics
    6. BIERY BJ; BRAVERMAN N; VALLE D
      CLONING OF THE 47KD HUMAN PEROXISOMAL MEMBRANE-PROTEIN GENE AND ANALYSIS OF THE TARGETING AND FUNCTION OF ITS PROTEIN PRODUCT

      Molecular biology of the cell
    7. MOSER AB; WALTON DS; BRAVERMAN N; MOSER HW
      THE MISSENSE ALLELE (A218V) IN THE RHIZOMELIC CHONDRODYSPLASIA PUNCTATA GENE IS ASSOCIATED WITH A MILDER PHENOTYPE

      Annals of neurology
    8. BIERY BJ; BRAVERMAN N; VALLE D
      CLONING OF THE 47 KD HUMAN PEROXISOMAL MEMBRANE-PROTEIN (PMP47) GENE AND ANALYSIS OF THE TARGETING AND FUNCTION OF ITS PROTEIN PRODUCT

      American journal of human genetics
    9. BRAVERMAN N; STEEL G; MOSER H; MOSER A; GOULD SJ; VALLE D
      GENOMIC STRUCTURE, MUTATION AND HAPLOTYPE ANALYSIS OF PEX7, THE GENE RESPONSIBLE FOR RHIZOMELIC CHONDRODYSPLASIA PUNCTATA (RCDP)

      American journal of human genetics
    10. MACCOLLIN M; BRAVERMAN N; VISKOCHIL D; RUTTLEDGE M; DAVIS K; OJEMANN R; GUSELLA J; PARRY DM
      A POINT MUTATION ASSOCIATED WITH A SEVERE PHENOTYPE OF NEUROFIBROMATOSIS-2

      Annals of neurology
    11. YAHRAUS T; BRAVERMAN N; DODT G; KALISH JE; MORRELL JC; MOSER HW; VALLE D; GOULD SJ
      THE PEROXISOME BIOGENESIS DISORDER GROUP-4 GENE, PXAAA1, ENCODES A CYTOPLASMIC ATPASE REQUIRED FOR STABILITY OF THE PTS1 RECEPTOR

      EMBO journal
    12. BRAVERMAN N; DODT G; YAHRAUS T; GOULD SJ; VALLE D
      ANALYSIS OF GENES INVOLVED IN THE PEROXISOME BIOGENESIS DISORDERS

      Pediatric research
    13. DODT G; BRAVERMAN N; WONG C; MOSER A; MOSER HW; WATKINS P; VALLE D; GOULD SJ
      MUTATIONS IN THE PTS1 RECEPTOR GENE, PXR1, DEFINE COMPLEMENTATION GROUP-2 OF THE PEROXISOME BIOGENESIS DISORDERS

      Nature genetics
    14. YAHRAUS T; DODT G; KALISH JE; BRAVERMAN N; VALLE D; GOULD SJ
      PXAAA1, THE HUMAN ORTHOLOG OF THE PICHIA-PASTORIS PAS5 GENE, IS GENE ESSENTIAL FOR STABILITY OF PXR1P

      Molecular biology of the cell
    15. DODT G; KALISH JE; BRAVERMAN N; VALLE D; GOULD SJ
      THE HUMAN PEROXISOMAL TARGETING SIGNAL-1 RECEPTOR (PXR1P) IS A CYCLING PROTEIN THAT PLAYS A CENTRAL ROLE IN PEROXISOMAL PROTEIN IMPORT

      Molecular biology of the cell
    16. BRAVERMAN N; DODT G; YAHRAUS T; GOULD SJ; VALLE D
      AN ISOFORM OF THE HUMAN PEROXISOME TARGETING SIGNAL (PTS)1 RECEPTOR IS REQUIRED FOR PTS2 MEDIATED PROTEIN IMPORT INTO PEROXISOMES

      Molecular biology of the cell
    17. BRAVERMAN N; DODT G; GOULD SJ; VALLE D
      DISORDERS OF PEROXISOME BIOGENESIS

      Human molecular genetics
    18. MACCOLLIN M; BRAVERMAN N; SIFFERT J; HOFMAN K; GUSELLA J; PARRY D
      IDENTICAL INACTIVATING MUTATION IN 3 CHILDREN WITH NEUROFIBROMATOSIS TYPE-2

      Annals of neurology
    19. PANDYA A; BRAVERMAN N; PYERITZ RE; YING KL; KLINE AD; FALK RE
      INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-6 ASSOCIATED WITHUNUSUAL LIMB ANOMALIES - REPORT OF 2 NEW PATIENTS AND REVIEW OF THE LITERATURE

      American journal of medical genetics
    20. BRAVERMAN N; DODT G; GOULD SJ; VALLE D
      AN ISOFORM OF THE HUMAN PEROXISOME TARGETING SIGNAL (PTS)-1 RECEPTOR IS REQUIRED FOR PTS2 MEDIATED PROTEIN IMPORT INTO PEROXISOMES

      American journal of human genetics
    21. BRAVERMAN N; KLINE A; PYERITZ RE
      INTERSTITIAL DELETION OF 6Q ASSOCIATED WITH ECTRODACTYLY

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/21 alle ore 13:19:46