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1. Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48

4. Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48.

6. Variants in CUL4B are Associated with Cerebral Malformations

9. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

10. First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

11. Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

12. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

13. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

16. Mitochondrial Mutations and the Ageing Process

18. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

22. The clinical significance of small copy number variants in neurodevelopmental disorders

24. High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power

31. Alkalosis

32. Atrial Fibrillation

33. West Syndrome

34. Spondyloepiphyseal Dysplasia

35. Stress-induced Tachycardia

36. Sarcoidosis (Lung)

37. Arrythmogenic Right Ventricular Dysplasia

38. Stress and Cardiovascular Risk

39. Syphilis of the Central Nervous System

40. Aortic Stenosis

41. Scleroderma, Systemic

42. Isolated FSH Deficiency

43. Insulin Producing Tumor

44. Stiff Esophagus

45. Autoimmune Hemolytic Anemia

46. Wiedemann-Beckwith Syndrome

47. Wiskott-Aldrich Syndrome

48. Arteritis Temporalis

49. Acute Confusional State

50. δ-Storage Pool Disease

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