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M. Krajewska Walasek

18

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118

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Rola piętnowanych genów w organizmie ludzkim na przykładzie regionu 11p15

2015 Postepy Biologii Komorki
- D Jurkiewicz
- M. Krajewska Walasek
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Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

2014 Clinical Genetics
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Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests.

2012 Gene
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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

2011 Journal of Inherited Metabolic Disease
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DYSCERNE Results from the full European launch of the Electronic Dysmorphology Diagnostic System (DDS)

2010 Journal of Medical Genetics
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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

2010 Journal of Inherited Metabolic Disease
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Patogeneza zespolu Coffina i Lowry'ego

2008 Postepy Biologii Komorki
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Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

2008 European Journal of Medical Genetics
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Molekularne mechanizmy powstania zespolu Retta

2006 Postepy Biologii Komorki
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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

2006 European Journal of Medical Genetics
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Citations (24)