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Judith Kötting

Ruhr University Bochum

11

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143

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Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy.

2014 Neuropediatrics
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High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections

2013 Molecular and Cellular Probes
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Association of serotonin-1A and -2A receptor promoter polymorphisms with depressive symptoms, functional recovery, and pain in patients 6 months after lumbar disc surgery

2013 Pain
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Polymorphisms of genes coding for ghrelin and its receptor in relation to colorectal cancer risk: a two-step gene-wide case-control study

2010 BMC Gastroenterology
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Unusual Charcot-Marie-Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero.

2010 Muscle & Nerve
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Analysis of Rare APC Variants at the mRNA Level: Six Pathogenic Mutations and Literature Review

2009 The Journal of Molecular Diagnostics
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Eine neue Punktmutation im myelin protein zero (MPZ/P0) als Ursache einer schweren Ausprägung einer hereditären motorisch-sensiblen Neuropathie

2008 Aktuelle Neurologie
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