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1. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

3. Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

5. Hepatic sinusoidal obstruction syndrome and short-term application of 6-thioguanine in pediatric acute lymphoblastic leukemia

7. Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

8. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples

9. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

10. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants inSTXBP1

12. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

14. Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany

15. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

17. Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

19. Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

30. Entwicklung des Nervensystems

35. Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

38. Inborn Errors of Energy Metabolism Associated with Myopathies

39. Comprehensive analysis of the l-arginine/ l-homoarginine/nitric oxide pathway in preterm neonates: potential roles for homoarginine and asymmetric dimethylarginine in foetal growth.

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