Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Orendi, K; Uhrig, S; Mach, M; Tschepper, P; Speicher, MR.
Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
Am J Med Genet A. 2013; 161A(7):1806-1812
Doi: 10.1002/ajmg.a.35986
(- Case Report)
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Aubell Kristina
- Co-authors Med Uni Graz
- Artl Monika
- Speicher Michael
- Tschepper Petra
- Uhrig Sabine
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- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Chromosomes, Human, Pair 18 - genetics
- Electroencephalography -
- Epilepsy - drug therapy
- Face - abnormalities
- Humans -
- Intellectual Disability - genetics
- Male -
- Triazines - therapeutic use
- Trisomy - genetics