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Online Mendelian Inheritance in Man
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Genetic Testing for Malformations of Cortical Development
2022 |
Second Faculty of Medicine
publication
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
2020 |
First Faculty of Medicine
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FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
2007 |
Second Faculty of Medicine
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Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females
2018 |
First Faculty of Medicine