biomedicina slovenica

re="Hum Mutat" : 14

  1. Cotton Richard G.H.; Glavač Damjan
    Mutation detection 2001: Sixth international symposium on mutations in the human genome, May 3-7, 2001, Bled, Slovenia
    2001 ►
  2. Jaakson K; Zernant J; Kuelm M; Hutchinson A; Tonisson N; Glavač D; Ravnik-Glavač M; Hawlina M; Meltzer MR; Caruso RC
    Genotyping microarray (gene chil) for the ABCR (ABCA4) gene
    2003 ►
  3. Glavač Damjan; Potočnik Uroš; Podpečnik Darja; Žižek Teofil; Smerkolj Sava; Ravnik-Glavač Metka
    Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis
    2002 ►
  4. Ravnik-Glavač Metka; Atkinson Andrew; Glavač Damjan; Dean Michael
    DHPLC screening of cystic fibrosis gene mutations
    2002 ►
  5. Cihakova Daniela; Trebušak Katarina; Kržišnik C; Bratanič N; Žerjav-Tanšek M; Uršič-Bratina N; Stopar-Obreza M; Repič-Lampret B
    Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED
    2001 ►
  6. Cihakova Daniela; Trebušak Katarina; Heino Maarit; Fadeyev Valentin; Tiulpakov Antony; Battelino Tadej
    Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED
    2001 ►
  7. Zbar B; Kishida T; Chen F; Schmidt L; Maher ER; Richards FM; Crossey PA; Webster AR; Affara NA; Glavač D
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families rom North America, Europe, and Japan
    1996 ►
  8. Kazazan Haig H; Ravnik-Glavač Metka; Glavač Damjan; Komel Radovan; Ferec C; Canki-Klain N; Durie P; Rozen R; Morgan K; Fujiwara M
    Population variation of common cystic fibrosis mutations
    1994 ►
  9. Strmecki Lana; Benedik-Dolničar Majda; Vouk Katja; Komel Radovan
    Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G->A) and discussion of mutation spectrum
    1999 ►
  10. Chen Fan; Kishida Takeshi; Yao Masahiro; Hustad Thomas; Glavač Damjan; Dean Michael; Gnarra James R; Orcutt Mary L; Duh Fuh M; Glenn Gladys
    Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype
    1995 ►
  11. Glavač Damjan; Dean Michael
    Applications of heteroduplex analysis for mutation detection in disease genes
    1995 ►
  12. Glavač D; Dean M
    Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
    1993 ►
  13. Ravnik-Glavač Metka; Glavač Damjan; Chernick Mila; di Sant'Agnese Paul; Dean Michael
    Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy
    1994 ►
  14. Ravnik-Glavač Metka; Glavač Damjan; Komel Radovan; Dean Michael
    Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations
    1993 ►

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