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Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.
Genes (Basel). 2016 Sep 2;7(9):59. doi: 10.3390/genes7090059.
Genes (Basel). 2016.
PMID: 27598204
Free PMC article.
Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.
Sobczyńska-Tomaszewska A, Ołtarzewski M, Czerska K, Wertheim-Tysarowska K, Sands D, Walkowiak J, Bal J, Mazurczak T; NBS CF working group.
Sobczyńska-Tomaszewska A, et al.
Eur J Hum Genet. 2013 Apr;21(4):391-6. doi: 10.1038/ejhg.2012.180. Epub 2012 Aug 15.
Eur J Hum Genet. 2013.
PMID: 22892530
Free PMC article.
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The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
Kucharczyk M, Kochański A, Jezela-Stanek A, Kugaudo M, Sielska-Rotblum D, Gutkowska A, Krajewska-Walasek M.
Kucharczyk M, et al. Among authors: sielska rotblum d.
Am J Med Genet A. 2014 Oct;164A(10):2541-50. doi: 10.1002/ajmg.a.36686. Epub 2014 Aug 8.
Am J Med Genet A. 2014.
PMID: 25111638
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