Publikace
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | 2. lékařská fakulta, 1. lékařská fakulta
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | 2. lékařská fakulta
- FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism2010 | 2. lékařská fakulta
- Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene2009 | 2. lékařská fakulta
- Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism2008 | 2. lékařská fakulta
- A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 172007 | 2. lékařská fakulta
- Diagnostické možnosti syndromů Prader-Willi a Angelman2005 | 2. lékařská fakulta
- Concomitancy of mutation in FRDA gene and FMR1 premutation in 58 year-old woman2005 | 2. lékařská fakulta
- Kazuistiky pacientů s marker chromozómy2004 | 2. lékařská fakulta
- Genetika autismu +12002 | 2. lékařská fakulta
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