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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome.
Jezela-Stanek A, Dobrzańska A, Maksym-Gąsiorek D, Trzeciakowski W, Gutkowska A, Olczak-Kowalczyk D, Gajdulewicz M, Spodar K, Czech-Kowalska J, Krajewska-Walasek M.
Jezela-Stanek A, et al. Among authors: maksym gasiorek d.
Clin Dysmorphol. 2009 Jan;18(1):13-17. doi: 10.1097/MCD.0b013e328317c884.
Clin Dysmorphol. 2009.
PMID: 18955897
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