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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. Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

3. DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

5. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

6. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

7. Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death

10. AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

11. Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

13. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

16. Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

17. Xenotropic and polytropic retrovirus receptor 1 regulates procoagulant platelet polyphosphate

19. Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death

20. Rationale and Design of the Hamburg City Health Study

22. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

23. Germline mutations in a G protein identify signaling cross-talk in T cells

24. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

25. HMG-CoA reductase is a potential therapeutic target for migraine:a mendelian randomization study

27. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

28. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

29. Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

30. Integrated Molecular Characterization of Testicular Germ Cell Tumors

31. Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

32. Multimodal characterization of dilated cardiomyopathy: Geno‐ And Phenotyping of PrImary Cardiomyopathy (GrAPHIC)

33. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

35. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

36. Germline AGO2 mutations impair RNA interference and human neurological development

37. Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

38. HMG-CoA reductase is a potential therapeutic target for migraine: a mendelian randomization study.

40. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

41. Molecular genetic overlap between migraine and major depressive disorder

43. The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

44. Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson’s disease

45. Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

46. Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor

47. AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

48. Multimodal characterization of dilated cardiomyopathy: Geno‐ And Phenotyping of PrImary Cardiomyopathy (GrAPHIC).

49. A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities

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

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