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Zimowski Jg

Gdańsk Medical University

26

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190

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First trimester pregnancy loss: Clinical implications of genetic testing

2017 Journal of Obstetrics and Gynaecology Research
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Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders

2017 Journal of Obstetrics and Gynaecology Research
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Prenatal diagnosis of congenital myopathies and muscular dystrophies

2016 Clinical Genetics
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First-trimester spontaneous pregnancy loss – molecular analysis using multiplex ligation-dependent probe amplification

2016 Clinical Genetics
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No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

2015
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Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients

2014 Neuromuscular Disorders
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MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy

2014 Neurologia I Neurochirurgia Polska
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Two mutations in one dystrophin gene

2013 Neurologia I Neurochirurgia Polska
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The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

2013 Mitochondrion
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Hereditary form of prion disease in Poland.

2012 Neurologia I Neurochirurgia Polska
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