MTMT-ben szereplő publikációk tallózása szerző szerint "Saunier S"

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  • Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans 
    Halbritter J; Bizet AA; Schmidts M; Porath JD; Braun DA; Gee HY; McInerney-Leo AM; Krug P; Filhol E; Davis EE; Airik R; Czarnecki PG; Lehman AM; Trnka P; Nitschke P; Bole-Feysot C; Schueler M; Knebelmann B; Burtey S; Szabó, Attila; Tory, Kálmán; Leo PJ; Gardiner B; McKenzie FA; Zankl A; Brown MA; Hartley JL; Maher ER; Li C; Leroux MR; Scambler PJ; Zhan SH; Jones SJ; Kayserili H; Tuysuz B; Moorani KN; Constantinescu A; Krantz ID; Kaplan BS; Shah JV; UK10K Consortium; Hurd TW; Doherty D; Katsanis N; Duncan EL; Otto EA; Beales PL; Mitchison HM; Saunier S; Hildebrandt F (2013)
    Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, ...
  • QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions 
    Jávorszky, Eszter; Moriniere V; Kerti, Andrea; Balogh, Eszter; Piko H; Saunier S; Karcagi V; Antignac C; Tory, Kálmán (2017)
    BACKGROUND: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general ...