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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeAMERICAN JOURNAL OF HUMAN GENETICS. Bd. 89. H. 5. 2011 S. 668-674
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Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesisEUROPEAN JOURNAL OF PEDIATRICS. Bd. 170. H. 2. 2011 S. 265-265
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Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid DysgenesisJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. Bd. 96. H. 6. 2011 S. E977-E981
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Mutations in the VHL tumor suppressor gene as prognostic factor for sporadic renal-cell carcinomas?ONKOLOGIE. Bd. 34. 2011 S. 181-181
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Natriuretic peptide levels in intrauterine growth-restricted fetuses with absent and reversed end-diastolic flow of the umbilical artery in relation to ductus venosus flow velocitiesJOURNAL OF PERINATAL MEDICINE. Bd. 39. H. 5. 2011 S. 529-537
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Neonatale ABCA3-Mutation – gibt es Therapieoptionen? [Abstract]Monatsschr Kinderheilkd. Bd. 159. H. Spl3. 2011 S. 264
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Neuropsychiatric symptoms and brain structural alterations in Fabry diseaseEUROPEAN JOURNAL OF NEUROLOGY. Bd. 18. H. 2. 2011 S. 347-353