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La ricerca find articoli where authors phrase all words ' van den Heuvel, LP' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 15 riferimenti
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    1. Niers, LEM; Smeitink, JAM; Trijbels, JMF; Sengers, RCA; Janssen, AJM; van den Heuvel, LP
      Prenatal diagnosis of NADH : ubiquinone oxidoreductase deficiency

      PRENATAL DIAGNOSIS
    2. Okhuijsen-Kroes, EJ; Trijbels, JMF; Sengers, RCA; Mariman, E; van den Heuvel, LP; Wendel, U; Koch, G; Smeitink, JAM
      Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation

      NEUROPEDIATRICS
    3. Triepels, RH; Van den Heuvel, LP; Trijbels, JM; Smeitink, JA
      Respiratory chain complex I deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Calo, L; Ceolotto, G; Milani, M; Pagnin, E; van den Heuvel, LP; Sartori, M; Davis, PA; Costa, R; Semplicini, A
      Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes

      KIDNEY INTERNATIONAL
    5. Triepels, RH; Hanson, BJ; van den Heuvel, LP; Sundell, L; Marusich, MF; Smeitink, JA; Capaldi, RA
      Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns

      JOURNAL OF BIOLOGICAL CHEMISTRY
    6. Rubio-Gozalbo, ME; Dijkman, KP; van den Heuvel, LP; Sengers, RCA; Wendel, U; Smeitink, JAM
      Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations

      HUMAN MUTATION
    7. Loeffen, JLCM; Smeitink, JAM; Trijbels, JMF; Janssen, AJM; Triepels, RH; Sengers, RCA; van den Heuvel, LP
      Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

      HUMAN MUTATION
    8. Kucharczuk, K; de Giorgi, AM; Golden, J; Zacharowicz, L; van den Heuvel, LP; Kaplan, BS
      Additional findings in Galloway-Mowat syndrome

      PEDIATRIC NEPHROLOGY
    9. Smeitink, JAM; Sengers, RCA; Trijbels, FJM; van den Heuvel, LP
      Nuclear genes and oxidative phosphorylation disorders: a review

      EUROPEAN JOURNAL OF PEDIATRICS
    10. Messina, A; Guarino, F; Oliva, M; van den Heuvel, LP; Smeitink, J; De Pinto, V
      Characterization of the human porin isoform 1 (HVDAC1) gene by amplification on the whole human genome: A tool for porin deficiency analysis

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    11. Hiel, JA; Weemaes, CM; van den Heuvel, LP; van Engelen, BG; Gabreels, FJ; Smeets, DF; van der Burgt, I; Chrzanovska, KH; Bernatowska, E; Krajewska-Walasek, M; Bialecka, M; Abramczuk, D; Gregorek, H; Michalkiewicz, I; Perek, D; Midro, AT; Seemanova, E; Belohradsky, BH; Solder, B; Barbi, G; Wegner, RD; Sperling, K; Dixon, J; Maraschio, P; Marseglia, GL; Green, A; Taylor, AM; Der Kaloustian, VM; Komatsu, K; Matsuura, S; Conley, ME; Concannon, P; Gatti, RA
      Nijmegen breakage syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    12. Triepels, RH; van den Heuvel, LP; Loeffen, JLCM; Buskens, CAF; Smeets, RJP; Gozalbo, MER; Budde, SMS; Mariman, EC; Wijburg, FA; Barth, PG; Trijbels, JMF; Smeitink, JAM
      Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

      ANNALS OF NEUROLOGY
    13. Coenen, MJH; van den Heuvel, LP; Nijtmans, LGJ; Morava, E; Marquardt, I; Girschick, HJ; Trijbels, FJM; Grivell, LA; Smeitink, JAM
      SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    14. Messina, A; Oliva, M; Rosato, C; Huizing, M; Ruitenbeek, W; van den Heuvel, LP; Forte, M; Rocchi, N; De Pinto, V
      Mapping of the human voltage-dependent anion channel isoforms 1 and 2 reconsidered

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    15. Loeffen, JLCM; Triepels, RH; van den Heuvel, LP; Schuelke, M; Buskens, CAF; Smeets, RJP; Trijbels, JMF; Smeitink, JAM
      cDNA of eight nuclear encoded subunits of NADH : ubiquinone oxidoreductase: Human complex I cDNA characterization completed

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 22:20:40