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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

4. 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

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

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

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

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

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

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

17. Rationale and Design of the Hamburg City Health Study

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

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

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

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

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

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

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

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

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

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

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

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

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

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

38. Molecular genetic overlap between migraine and major depressive disorder

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

41. Dysfunction of the MDM2/p53 axis is linked to premature aging

42. Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

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

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

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

49. Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

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