Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
Vazna, Alzbeta, Beesley, Clare, Berna, Linda, Stolnaja, Larisa, Myskova, Helena, Bouckova, Michaela, Vlaskova, Hana, Poupetova, Helena, Zeman, Jiri, Magner, Martin, Hlavata, Anna, Winchester, Bryan, Hrebicek, Martin, Dvorakova, Lenka
Published in American journal of medical genetics. Part A (01.05.2009)
Published in American journal of medical genetics. Part A (01.05.2009)
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Journal Article
FMR1 gene expansion, large deletion of Xp, and skewed X‐inactivation in a girl with mental retardation and autism
Vazna, Alzbeta, Musova, Zuzana, Vlckova, Marketa, Novotna, Dhahuse, Dvorakova, Lenka, Hrdlicka, Michal, Havlovicova, Marketa, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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Journal Article
The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations
Finkova, Alena, Vazna, Alzbeta, Hrachovina, Ondrej, Bendova, Sarka, Prochazkova, Kamila, Sedlacek, Zdenek
Published in Cancer genetics and cytogenetics (01.08.2009)
Published in Cancer genetics and cytogenetics (01.08.2009)
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Journal Article
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism
Vazna, Alzbeta, Musova, Zuzana, Vlckova, Marketa, Novotna, Dhahuse, Dvorakova, Lenka, Hrdlicka, Michal, Havlovicova, Marketa, Sedlacek, Zdenek
Published in American Journal of Medical Genetics Part A (01.05.2010)
Published in American Journal of Medical Genetics Part A (01.05.2010)
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