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1,565 results on '"A Begemann"'

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1. ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

2. Further delineation of the SCAF4-associated neurodevelopmental disorder

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

5. CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants

6. Psychiatrists effect on positive symptom severity and daily functioning during pharmacotherapy for first-episode psychosis patients

8. The reactive pyruvate metabolite dimethylglyoxal mediates neurological consequences of diabetes

9. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

10. Bmal1 deficiency in neutrophils alleviates symptoms induced by high-fat diet

12. Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability

16. Benchmarking whole exome sequencing in the German network for personalized medicine

18. Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

22. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

26. Differential associations of horizontally and vertically transmitted symbionts on Ixodes ricinus behaviour and physiology

27. Inhibition of IL-17 ameliorates keratinocyte-borne cytokine responses in an in vitro model for house-dust-mite triggered atopic dermatitis

28. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

32. Glyoxal in hyperglycaemic ischemic stroke – a cohort study

34. Prevalence of functional hypothalamic amenorrhea in a cohort of women referred because of polycystic ovary syndrome

37. Peeling Away the Layers of Workplace Gossip: A Framework, Review, and Future Research Agenda to Study Workplace Gossip as a Dynamic and Complex Behavior

39. Using brain cell-type-specific protein interactomes to interpret neurodevelopmental genetic signals in schizophrenia

47. Psychiatrists effect on positive symptom severity and daily functioning during pharmacotherapy for first-episode psychosis patients.

48. Ocular complications of antineoplastic therapies

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