Mgr. Eva Hladílková, Ph.D.
Assistant professor, Institute of Medical Genetics and Genomics
E‑mail: |
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Total number of publications: 29
2015
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A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms
MOLECULAR CYTOGENETICS, year: 2015, volume: 8, edition: 57, DOI
2012
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Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH
Molecular Syndromology, year: 2012, volume: 2011;2, edition: No. 2, DOI
2011
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Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience
Folia biologica, year: 2011, volume: 2011, edition: 57 No.5
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Familiální výskyt balancované a nebalancované formy translokace t(1;12) v rodině se dvěma postižnými dětmi
Year: 2011, type: Conference abstract
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Rare Constitutional Chromosomal Rearrangements Found In Three Probands
Year: 2011, type: Conference abstract
2010
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Array CGH characterization of three patients with deletion 22q13
Year: 2010, type: Conference abstract
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Databáze DECIPHER a její využití u pacientů s psychomotorickou retardací vyšetřovaných pomocí array CGH
Year: 2010, type: Appeared in Conference without Proceedings
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Detection of subtelomeric aberrations as a cause of mental retardation
Year: 2010, type: Conference abstract
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Charakteristika tří pacientů s mikrodelečním syndromem 22q13 - Phelan McDermid
Year: 2010, type: Appeared in Conference without Proceedings
2009
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Asistovaná reprodukce, neonatologie, lékařská genetika
Year: 2009, type: Appeared in Conference without Proceedings