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Katharina Keupp

University of Cologne

23

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1035

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HerediCaRe: Dokumentations- und IT-Lösung eines spezialisierten Registers für erblichen Brust- und Eierstockkrebs

2021 Gesundheitswesen
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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

2019 American Journal of Human Genetics
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Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature

2018 Oncology Letters
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SMARCA4- Risikogen für das kleinzellige Ovarialkarzinome des hyperkalzämischen Typs (SCCOHT)

2018
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Abstract P3-09-03: Low-level gonosomal mosaicism of a de novoBRCA1gene mutation – The origin of a constitutional mutation in a breast cancer family

2017 Cancer Research
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Prädiktive BRCA1/2-Gendiagnostik auf der Basis von Gewebeanalysen

2016 Geburtshilfe Und Frauenheilkunde
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Impairment of interleukin 11 signaling as a novel pathomechanism underlying Crouzon-like syndrome and pansynostosis

2015 International Journal of Oral and Maxillofacial Surgery
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Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

2013 Human Genetics
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A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

2013 Human Genetics
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Mutations in WNT1 Cause Different Forms of Bone Fragility

2013 American Journal of Human Genetics
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