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151 results on '"Bültmann, Eva"'

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1. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

2. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

6. Quantitative assessment of neurodevelopmental maturation: a comprehensive systematic literature review of artificial intelligence-based brain age prediction in pediatric populations.

16. WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly

22. Focal Seizures and Posterior Reversible Encephalopathy Syndrome as Presenting Signs of IgA Vasculitis/Henoch-Schoenlein Purpura—An Educative Case and Systematic Review of the Literature

25. Focal Seizures and Posterior Reversible Encephalopathy Syndrome as Presenting Signs of IgA Vasculitis/Henoch-Schoenlein Purpura—An Educative Case and Systematic Review of the Literature

28. Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential

31. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

33. A novel missense variant in the EML1gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects

38. Hörergebnisse und kognitive Fähigkeiten in Korrelation zu präoperativen MRT Befunden bei Patienten mit CI im höheren Lebensalter

39. Are there differences between macrocyclic gadolinium contrast agents for brain tumour imaging? Results of a multicenter intra-individual crossover comparison of gadobutrol with gadoteridol (The TRUTH study)

46. Ovarectomy despite Negative Imaging in Anti-NMDA Receptor Encephalitis: Effective Even Late

47. Measuring in vivo cerebral maturation using age-related T2 relaxation times at 3 T.

48. Age-related T2 relaxation times at 3 Tesla as a biomarker of infratentorial brain maturation.

50. Neurologic manifestations of E coli infection–induced hemolytic-uremic syndrome in adults

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