Allergy Diagnostics Turn Regional as Asian and Tropical Sensitization Patterns Emerge
New research from China, Thailand, Colombia, and India reveals how profoundly geography shapes allergic sensitization, exposing the limits of Western-focused ...
Tag: molecular diagnosis
Two Rare Blood Disorders in One Family: EPB41 Mutations and β-Thalassemia Unravel a Diagnostic Puzzle
A Chinese family case report reveals the rare co-inheritance of β-thalassemia and hereditary elliptocytosis, traced to EPB41 and HBB mutations ...
Whole-Exome Sequencing Finds Genetic Answers in a Third of Complex Autism Cases
A retrospective study of 320 Turkish patients with autism found established molecular diagnoses in 32.5 percent of the cohort, with ...
Simple Spinal Fluid Protein Test Could Curb Unnecessary Meningitis PCR Panels
A Colombian study of 478 patients found that routine cerebrospinal fluid white cell counts and protein levels could predict which ...
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Trio Genome Sequencing Finds Genetic Causes in Most Kids Born Small Who Never Catch Up
A study of 99 children born small for gestational age found that trio-based whole-exome sequencing delivered a molecular diagnosis in ...
New Long-Read RNA Sequencing Workflow Cracks Tough Splicing Variants in Rare Disease
A new targeted long-read RNA sequencing workflow called RAPID provided actionable functional evidence for splicing variants in every one of ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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