1,022 results on '"Winkelmann, Juliane"'
Search Results
2. Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
3. Spatial enhancer activation influences inhibitory neuron identity during mouse embryonic development
4. CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes
5. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
6. Epigenome-wide association study of dietary fatty acid intake
7. Next-generation sequencing and bioinformatics in rare movement disorders
8. The genetic etiology of periodic limb movement in sleep.
9. Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy
10. Personal protective equipment for healthcare workers during COVID-19: Developing and applying a questionnaire and assessing associations between infection rates and shortages across 19 countries
11. Episignature analysis of moderate effects and mosaics
12. A comparison of social prescribing approaches across twelve high-income countries
13. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
14. Pooled analysis of epigenome-wide association studies of food consumption in KORA, TwinsUK and LLS
15. Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
16. Phenotypic and genome-wide studies on dicarbonyls: major associations to glomerular filtration rate and gamma-glutamyltransferase activity
17. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
18. Oral health status and coverage of oral health care: A five-country comparison
19. Challenges facing mental health systems arising from the COVID-19 pandemic: Evidence from 14 European and North American countries
20. HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44+ Natural Killer Cells in Ulcerative Colitis
21. The genetics of restless legs syndrome
22. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
23. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
24. Stationäre Versorgung während der ersten Welle der Covid-19-Pandemie in Europa: ein internationaler Vergleich
25. Political economy dichotomy in primary health care: bridging the gap between reality and necessity
26. Fast versus slow disease progression in amyotrophic lateral sclerosis–clinical and genetic factors at the edges of the survival spectrum
27. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing
28. ExomeChip-based rare variant association study in restless legs syndrome
29. Lessons learned from the Baltic countries’ response to the first wave of COVID-19
30. A country-level analysis comparing hospital capacity and utilisation during the first COVID-19 wave across Europe
31. Balancing financial incentives during COVID-19: A comparison of provider payment adjustments across 20 countries
32. Tackling the COVID-19 pandemic: Initial responses in 2020 in selected social health insurance countries in Europe
33. European countries' responses in ensuring sufficient physical infrastructure and workforce capacity during the first COVID-19 wave
34. Exploring variation of coverage and access to dental care for adults in 11 European countries: a vignette approach
35. Versorgungsprozesse und das Zusammenspiel der Sektoren im internationalen Vergleich
36. Chronic conditions and multimorbidity: skill-mix innovations for enhanced quality and coordination of care
37. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia
38. Genome Sequencing for Cases Unsolved by Exome Sequencing: Identifying a Single-Exon Deletion in TBCK in a Case from 30 Years Ago.
39. Clinico-genetic findings in 509 frontotemporal dementia patients
40. A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice
41. Usual dietary intake and change in DNA methylation over years: EWAS in KORA FF4 and KORA fit
42. Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant
43. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
44. Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
45. Monogenic variants in dystonia: an exome-wide sequencing study
46. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
47. How can skill-mix innovations support the implementation of integrated care for people with chronic conditions and multimorbidity?
48. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
49. Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine
50. Class II HLA interactions modulate genetic risk for multiple sclerosis.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.