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atypical deletions
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Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q
2008 |
Second Faculty of Medicine
publication
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
Second Faculty of Medicine
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
Publication without faculty affiliation
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
2019 |
Second Faculty of Medicine, Central Library of Charles University