Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Varon, R; Müer, A; Wagner, K; Zierler, H; Sodia, S; Rauter, L; Petek, E; Tönnies, H; Neitzel, H; Sperling, K; Kroisel, PM.
Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.
Am J Med Genet A. 2007; 143(1): 92-94.
Doi: 10.1002/ajmg.a.31540
(- Case Report)
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- Co-Autor*innen der Med Uni Graz
- Kroisel Peter
- Petek Erwin
- Sodia-Feldner Sigrun
- Wagner Klaus
- Zierler Hannelore
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- Adult -
- Chromosomes, Human, Pair 8 - genetics
- Female - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - genetics
- Infant - genetics
- Karyotyping - genetics
- Male - genetics
- Mothers - genetics
- Nijmegen Breakage Syndrome - diagnosis
- Uniparental Disomy - diagnosis