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1. Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

2. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

4. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

6. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

7. Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence StudyMonoallelic ABCA4 Mutations: A Phenotype Study

8. PEDIA: prioritization of exome data by image analysis

9. Deletions and loss-of-function variants in TP63 associated with orofacial clefting

10. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

12. Rare variants inPPFIA3cause delayed development, intellectual disability, autism, and epilepsy

14. Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

15. Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

16. Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

17. Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome

19. Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes

20. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

21. Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes

22. Molecular Genetic Screening in Patients With ACE Inhibitor/Angiotensin Receptor Blocker-Induced Angioedema to Explore the Role of Hereditary Angioedema Genes

23. Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only

24. First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B

26. SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients

27. Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

30. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

32. Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent

33. Extending the allelic spectrum at noncoding risk loci of orofacial clefting

34. Integrative approaches generate insights into the architecture of non-syndromic cleft lip ± cleft palate

35. Extending the allelic spectrum at noncoding risk loci of orofacial clefting

36. Impact of Maternal Smoking on Nonsyndromic Clefts: Sex-Specific Associations With Side and Laterality

37. Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate

38. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

39. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

40. Ten recently identified associations between nsSNPs and colorectal cancer could not be replicated in German families

42. Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

47. The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1

48. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

49. GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

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