biomedicina slovenica


re="Ann Genet" : 16

  1. Writzl K; Zorn B; Peterlin B
    Analysis of DAZ gene copy number in patients with oligozoospermia or azoospermia
    2003
  2. Medica I; Logar N; Leonardelli-Mileta D; Peterlin B
    Genealogical study of myotonic dystrophy in Istria (Croatia)
    2004
  3. Zagorac A; Lobnik-Krunič B; Zagradišnik B; Erjavec-Škerget A; Kokalj-Vokač N
    Identification of an unbalanced cryptic translocation between the chromosomes 8 and 21 in a boy with mild mental retardation accompained by mild dysmorphic features
    2003
  4. Erjavec-Škerget A; Zagorac A; Zagradišnik B; Kokalj-Vokač N
    Subtelomeric chromosome rearrangements in mentally retarded and/or dysmorphic patients from north-eastern Slovenia
    2003
  5. Veble A; Writzl K; Peterlin B
    Complete karyotypic discordance between villus stroma and fetus. Case report
    2003
  6. Zagradišnik Boris; Bračič Katarina; Marčun-Varda Nataša; Kokalj-Vokač Nadja; Gregorič Alojz
    G-protein beta3 subunit gene C825T polymorphism in patients with vesico-ureteric reflux
    2004
  7. Letonja Mitja; Gužič-Salobir Barbara; Peterlin Borut; Petrovič Daniel
    Apolipoprotein E gene polymorphism effects triglycerides but not CAD risk in Caucasian women younger than 65 years
    2004
  8. Kokalj-Vokač N; Ciglenečki-Seme P; Zagorac A; Erjavec A; Zagradišnik B
    Reactivation of duplicated region on inactive der(X) chromosome in a girl with abnormal clinical findings
    2001
  9. Kokalj-Vokač Nadja; Medica Igor; Zagorac Andreja; Zagradišnik Boris; Erjavec Alenka; Gregorič Alojz
    A case of insertional translocation resulting in partial trisomy 16p
    2000
  10. Petrovič Daniel; Zorc M; Keber I; Peterlin B
    Joint effect of G1691A factor V point mutation and factor VII Arg/Lln353 gene polymorphism on the risk of premature coronary artery disease
    2001
  11. Smahi A; Peterlin B; Onodera O; Tsuji S; Fulchignoni-Lataud MC
    Use of a radiation-reduced hybrid panel for the localization of seven markers in the Xq28 region of the human genome
    1994
  12. Eržen M; Stanescu R; Stanescu V; Maroteaux P
    Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type I and type III and in chondroectodermal dysplasia
    1988
  13. Canki-Klain N; Stanescu V; Bebler P; Maroteaux P
    Pseudodiastrophic dysplasia evolution with age and management. Report of two new cases and review of the literature
    1990
  14. Canki-Klain N; Stanescu V; Stanescu R; Šinkovec J; Debevec M; Maroteaux P
    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?
    1992
  15. Ravnik-Glavač M; Gasparini P; Peterlin B; Štrukelj M; Glavač D; Canki-Klain N; Pignatti PF; Komel R
    Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population
    1992
  16. Canki N; Warburton D; Byrne J
    Morphological characteristics of monosomy X in spontaneous abortions
    1988


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