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Candidate gene testing in clinical cohort studies with multiplexed genotyping and mass spectrometry

We describe a cost-effective tag single nucleotide polymorphism approach using a multiplexed genotyping assay with mass spectrometry

Human Primary Epithelial Cell Models: Promising Tools in the Era of Cystic Fibrosis Personalized Medicine

In this Review, we consolidate the latest updates in the development of primary epithelial cellular model systems relevant for cystic fibrosis

Telehealth for Diagnosis of Hearing Loss

Telehealth offers unique opportunities for providing access to hearing healthcare ser- vices to underserved populations

New therapeutic opportunities from dissecting the pre-B leukemia bone marrow microenvironment

We provide evidence that targeting leukemia-induced bone loss is a therapeutic strategy for pre-B ALL

Effect of 6 months hybrid closed-loop insulin delivery in young people with type 1 diabetes: a randomised controlled trial protocol

This is a randomised controlled home trial to test the MiniMed Medtronic 670G system in people with type 1 diabetes aged 12-25 years

Identification of generic and pathogen-specific cord blood monocyte transcriptomes reveals a largely conserved response in preterm and term newborn infants

These data provide novel insights into the functionality of neonatal monocytes at birth

Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic Response

Despite low ERBB4 mRNA in glioblastoma, the functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target

Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative review

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability

Fetal Alcohol Spectrum Disorder

Supports healthcare professionals to understand how to make a diagnosis of FASD and to provide support for those diagnosed with FASD

Medulloblastoma therapy generates risk of a poorly-prognostic H3 wild-type subgroup of diffuse intrinsic pontine glioma: a report from the International DIPG Registry

These findings provide a compelling argument for efforts to reduce exposure of the brainstem in the treatment of medulloblastoma