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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
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COVID-19 Response and Lessons Learned on Dengue Control in BhutanCoronavirus disease 2019 (COVID-19) is an acute respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 initially was identified from a cluster of patients admitted with ‘pneumonia of unknown etiology’ in late December 2019 to hospitals in Wuhan, Hubei Province, China.
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Mental Health Correlates of Autism Spectrum Disorder in Gender Diverse Young People: Evidence from a Specialised Child and Adolescent Gender Clinic in AustraliaCurrent findings indicate that gender diverse children and adolescents with indicated ASD comprise an especially vulnerable group at risk of mental health difficulties
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Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measureInitial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability
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Adjunctive protein synthesis inhibitor antibiotics for toxin suppression in Staphylococcus aureus infections: a systematic appraisalA summary of the literature regarding the use of adjunctive protein synthesis inhibitors for toxin suppression in the setting of S. aureus infections is presented
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International experience in the development of patient-derived xenograft models of diffuse intrinsic pontine gliomaThis multi-center study provides valuable information on the success rate of establishing patient-derived pre-clinical models of diffuse intrinsic pontine glioma
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Maternal high fat diet compromises survival and modulates lung development of offspring, and impairs lung function of damsWhile maternal high fat diet compromised litter survival, it also promoted somatic and lung growth (increased lung volume) in the offspring
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C1 CAGE detects transcription start sites and enhancer activity at single-cell resolution.We introduce C1 CAGE, a method for the detection of transcript 5'-ends with an original sample multiplexing strategy in the C1TM microfluidic system
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Ground zero—the airway epitheliumNew PageThis chapter will discuss the structure of the airway highlighting the now broad number of cell types that comprise it
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A novel, palatable paediatric oral formulation of midazolam: Pharmacokinetics, tolerability, efficacy and safetyWe conclude that the novel chocolate-based formulation of midazolam provides improved tolerability while remaining efficacious