biomedicina slovenica

re="Hum Hered" : 5

1. Ravnik-Glavač Metka; Dean Michael; Glavač Damjan
   Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens
   2000 ►
2. Potočnik Uroš; Glavač Damjan; Golouh Rastko; Ravnik-Glavač Metka
   A novel Q562X mutation identified in the hMLH1gene in a Slovenian patient with hereditary nonpolyposis colorectal cancer
   2000 ►
3. Liović Mirjana; Podrumac Božena; Dragoš Vlasta; Vouk Katja; Komel Radovan
   K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)
   2000 ►
4. Strmecki Lana; Benedik-Dolničar Majda; Komel Radovan
   A novel mutation Q602STOP in exon 12 of the FVIII gene
   1998 ►
5. Ravnik-Glavač Metka; Potočnik Uroš; Koželj Matjaž; Križman Igor; Glavač Damjan
   A novel in frame deletion of codons 188-190 in the hMSH2 gene of a Slovenian patient with hereditary non-polyposis colorectal cancer
   1998 ►

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