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Projects / Programmes source: ARIS

Subtelomerne kromosomske spremembe pri idiopatski mentalni zaostalosti (Slovene)

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Research activity

Code Science Field Subfield
3.05.00  Medical sciences  Human reproduction   

Code Science Field
B220  Biomedical sciences  Genetics, cytogenetics 
Keywords
idiopathic mental retardation, subtelomeric chromosome abnormalities
Evaluation (rules)
source: COBISS
Evaluation of bibliographic research performance indicators according to ARIS methodology
Citations Citations for bibliographic records in COBIB.SI that are linked to records in citation databases
source: WoS source: Scopus source: COBISS
Researchers (4)
no. Code Name and surname Research area Role Period No. of publications
1.  20135  PhD Alenka Erjavec Škerget  Human reproduction  Researcher  2000 - 2001  150 
2.  13343  PhD Nadja Kokalj Vokač  Oncology  Head  2000 - 2001  448 
3.  15747  Andreja Zagorac  Human reproduction  Researcher  2000 - 2001  154 
4.  18205  PhD Boris Zagradišnik  Oncology  Researcher  2000 - 2001  259 
Organisations (1)
no. Code Research organisation City Registration number No. of publications
1.  0334  University Medical Centre Maribor  Maribor  5054150000  22,768 
Abstract
About 3% of individuals are affected by mental retardation, which is unexplained in more than half of all cases. Genetic studies of last few years showed that the cause in some case is in relatively small subtelomeric chromosomal abnormalities in patients with normal routine karyotypes. New methods in molecular cytogenetics enable detection of such chromosomal changes. In our study , first such in Slovenia, we will collect children from the school with adapted program in Maribor and other mantaly affected children with normal karyotyps.
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