tallózása szerző szerint "Lebl J"

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  • Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia. 
    Votava F; Török, Dóra; Kovacs J; Moslinger D; Baumgartner-Parzer SM; Sólyom, János; Pribilincova Z; Battelino T; Lebl J; Frisch H; Waldhauser F; Middle European Society for Paediatric Endocrinology – Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group (2005)
    OBJECTIVE: Newborn screening based on measurement of 17alpha-hydroxyprogesterone (17-OHP) in a dried blood spot on filter paper is an effective tool for early diagnosis of congenital adrenal hyperplasia (CAH) due to ...
  • Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations 
    Dusatkova P; Pfaffle R; Brown MR; Akulevich N; Arnhold IJ; Kalina MA; Kot K; Krzisnik C; Lemos MC; Malikova J; Navardauskaite R; Obermannova B; Pribilincova Z; Sallai, Ágnes; Stipancic G; Verkauskiene R; Cinek O; Blum WF; Parks JS; Austerlitz F; Lebl J (2016)
    Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to ...
  • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia 
    Dolzan V; Sólyom, János; Fekete, György; Kovacs J; Rakosnikova V; Votava F; Lebl J; Pribilincova Z; Baumgartner-Parzer SM; Riedl S; Waldhauser F; Frisch H; Stopar-Obreza M; Krzisnik C; Battelino T (2005)
    OBJECTIVE: To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for ...