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mental-retardation syndrome
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Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome
2018 |
Faculty of Science, Faculty of Physical Education and Sport
publication
Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases
2019 |
Faculty of Medicine in Pilsen
publication
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
2006 |
Second Faculty of Medicine
publication
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
2008 |
Second Faculty of Medicine