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La ricerca find articoli where authors phrase all words ' KONECKI DS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 23 riferimenti
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    1. Lichter-Konecki, U; Broman, KW; Blau, EB; Konecki, DS
      Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Rivera, I; Cabral, A; Almeida, M; Leandro, P; Carmona, C; Eusebio, F; Tasso, T; Vilarinho, L; Martins, E; Lechner, MC; de Almeida, IT; Konecki, DS; Lichter-Konecki, U
      The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

      MOLECULAR GENETICS AND METABOLISM
    3. Lichter-Konecki, U; Hipke, CM; Konecki, DS
      Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues

      MOLECULAR GENETICS AND METABOLISM
    4. Lichter-Konecki, U; Moter, SE; Krawisz, BR; Schlotter, M; Hipke, C; Konecki, DS
      Expression patterns of murine lysosome-associated membrane protein 2 (Lamp-2) transcripts during morphogenesis

      DIFFERENTIATION
    5. LEANDRO P; RIVERA I; DEALMEDIA IT; LECHNER MC; KONECKI DS
      PROKARYOTIC EXPRESSION OF PAH MUTANT FORMS

      European journal of human genetics
    6. KONECKI DS; PHILLIPS JJ
      TURBOPREP II - AN INEXPENSIVE, HIGH-THROUGHPUT PLASMID TEMPLATE PREPARATION PROTOCOL

      BioTechniques
    7. VINCENT JB; KONECKI DS; MUNSTERMANN E; BOLTON P; POUSTKA A; POUSTKA F; GURLING HMD
      POINT MUTATION ANALYSIS OF THE FMR-1 GENE IN AUTISM

      Molecular psychiatry
    8. BURGARD P; RUPP A; KONECKI DS; TREFZ FK; SCHMIDT H; LICHTERKONECKI U
      PHENYLALANINE-HYDROXYLASE GENOTYPES, PREDICTED RESIDUAL ENZYME-ACTIVITY AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA

      European journal of pediatrics
    9. KONECKI DS; FOETISCH K; ZIMMER KP; SCHLOTTER M; KONECKI UL
      AN ALTERNATIVELY SPLICED FORM OF THE HUMAN LYSOSOME-ASSOCIATED MEMBRANE PROTEIN-2 GENE IS EXPRESSED IN A TISSUE-SPECIFIC MANNER

      Biochemical and biophysical research communications
    10. SEDLACEK Z; KONECKI DS; KORN B; KLAUCK SM; POUSTKA A
      EVOLUTIONARY CONSERVATION AND GENOMIC ORGANIZATION OF XAP-4, AN XQ28 LOCATED GENE CODING FOR A HUMAN RAB GDP-DISSOCIATION INHIBITOR (GDI)

      Mammalian genome
    11. LICHTERKONECKI U; SCHLOTTER M; KONECKI DS
      DNA-SEQUENCE POLYMORPHISMS IN EXONIC AND INTRONIC REGIONS OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE AID IN THE IDENTIFICATION OF ALLELES

      Human genetics
    12. BENDER C; BUCHLER A; BAUMGARTNER R; KONECKI DS; TREFZ FK
      METHYLMALONIC ACIDEMIA - HAPLOTYPE ANALYSIS OF THE METHYLMALONYL-COA-MUTASE GENE IN EUROPE

      European journal of pediatrics
    13. BENDER C; BUCHLER A; SCHMIDTMADER B; SCHLOTTER M; TEEBI AS; KONECKI DS; TREFZ FK
      HAPLOTYPE ANALYSIS AND A NEW MSPI-POLYMORPHISM AT THE PHENYLALANINE-HYDROXYLASE GENE IN THE ARABIAN POPULATION

      European journal of pediatrics
    14. BUCK D; THOMAS K; HEATHCOTT R; MUNGALL A; MCMURRAY A; BARON L; HODGSON D; ZHAO S; BENTLEY D; KIOSCHIS P; COY JF; KONECKI DS; MICKLEM G; POUSTKA AM
      SEQUENCING AND ANALYSIS OF HUMAN XQ28 GENOMIC DNA IN THE REGION OF THE RCP GCP LOCUS/

      Cytogenetics and cell genetics
    15. SEDLACEK Z; KONECKI DS; KOM B; KLAUCK SM; POUSTKA A
      XAP-4, A NOVEL GENE CODING FOR A RAB GDP-DISSOCIATION INHIBITOR, IS CONSERVED IN EVOLUTION AND RESIDES IN A VERY GENE-RICH REGION OF XQ28

      Cytogenetics and cell genetics
    16. LICHTERKONECKI U; RUPP A; KONECKI DS; TREFZ FK; SCHMIDT H; BURGARD P
      RELATION BETWEEN PHENYLALANINE-HYDROXYLASE GENOTYPES AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF HYPERPHENYLALANINAEMIC DISORDERS

      Journal of inherited metabolic disease
    17. BARIC I; MARDESIC D; SARNAVOKA V; LICHTERKONECKI U; KONECKI DS; TREFZ FK
      GEOGRAPHICAL-DISTRIBUTION OF THE P281L MUTATION AT THE PHENYLALANINE-HYDROXYLASE LOCUS - POSSIBLE ORIGIN IN SOUTHEASTERN EUROPE

      Journal of inherited metabolic disease
    18. KONECKI DS; FOETISCH K; SCHLOTTER M; LICHTERKONECKI U
      COMPLETE CDNA SEQUENCE OF HUMAN LYSOSOME-ASSOCIATED MEMBRANE PROTEIN-2

      Biochemical and biophysical research communications
    19. VERKERK AJMH; DEGRAAFF E; DEBOULLE K; EICHLER EE; KONECKI DS; REYNIERS E; MANCA A; POUSTKA A; WILLEMS PJ; NELSON DL; OOSTRA BA
      ALTERNATIVE SPLICING IN THE FRAGILE X-GENE FMR1 (VOL 2, PG 399, 1993)

      Human molecular genetics
    20. SEDLACEK Z; KORN B; KONECKI DS; SIEBENHAAR R; COY JF; KIOSCHIS P; POUSTKA A
      CONSTRUCTION OF A TRANSCRIPTION MAP OF A 300 KB REGION AROUND THE HUMAN G6PD LOCUS BY DIRECT CDNA SELECTION

      Human molecular genetics
    21. KONECKI DS; SCHWEITZERKRANTZ S; BYRD D; TREFZ FK; LICHTERKONECKI U
      FACILITATION OF HYPERPHENYLALANINEMIA PHENOTYPE ASSESSMENT BY GENOTYPE ANALYSIS

      European journal of pediatrics
    22. SEDLACEK Z; KONECKI DS; SIEBENHAAR R; KIOSCHIS P; POUSTKA A
      DIRECT SELECTION OF DNA-SEQUENCES CONSERVED BETWEEN SPECIES

      Nucleic acids research
    23. SEDLACEK Z; KONECKI DS; SIEBENHAAR R; KIOSCHIS P; POUSTKA A
      DIRECT SELECTION OF DNA-SEQUENCES CONSERVED BETWEEN SPECIES

      Cytogenetics and cell genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 12:11:03