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Reports and Findings

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

Innate immune activation occurs in acute food protein–induced enterocolitis syndrome reactions

Food reactions in food protein–induced enterocolitis syndrome are predominantly underpinned by activation of the innate immune system

Birth seasonality and risk of autism spectrum disorder

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetes

HLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group

Severity Assessment in CDKL5 Deficiency Disorder

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Challenges to curing primary brain tumours

The seven key challenges summarized in this Position Paper are intended to serve as foci for future research and investment in brain tumours

Antisense Transcription in Loci Associated to Hereditary Neurodegenerative Diseases

Evidence for the existence of additional regulatory mechanisms of the expression of neurodegenerative disease-causing genes by antisense long noncoding RNAs

MicroRNA Signatures in Malignant Pleural Mesothelioma Effusions

These results suggest that the expression of miR-143, miR-210, and miR-200c in PE cells might provide a signature for diagnosing malignant pleural mesothelioma

High-Rise Apartments and Urban Mental Health—Historical and Contemporary Views

High-rise apartment buildings have long been associated with the poor mental health of their residents