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Your search keyword '"Keupp, Katharina"' showing total 31 results

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31 results on '"Keupp, Katharina"'

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

2. Mutations in WNT1 Cause Different Forms of Bone Fragility

3. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

4. Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

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

8. A mutation screen in patients with Kabuki syndrome

9. HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer

10. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

11. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

12. Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility

13. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

14. Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility

16. Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature

17. Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

18. Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

20. Spotlight on the pathogenesis of Kabuki syndrome

21. Rap1-Mediated Mek/Erk Pathway Defects In Kabuki Syndrome

22. Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

25. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

26. Mutations in the interleukin receptor cause autosomal recessive Crouzon-like craniosynostosis

28. The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

29. Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis

30. Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis

31. [HerediCaRe: Documentation and IT Solution of a Specialized Registry for Hereditary Breast and Ovarian Cancer].

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