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Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion
The monogenic causes of very-early-onset inflammatory bowel disease (VEO-IBD) have been defined by genetic studies, which were usually related to...
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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
BackgroundTo investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center...
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Beyond IBD: the genetics of other early-onset diarrhoeal disorders
Diarrhoeal disorders in childhood extend beyond the inflammatory bowel diseases. Persistent and severe forms of diarrhoea can occur from birth and...
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Factors associated with mortality in early stages of parkinsonism
Prognosis of patients with parkinsonism varies greatly between the various parkinsonian syndromes. However, it is often difficult to distinguish the...
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Integrating a microRNA signature as a liquid biopsy-based tool for the early diagnosis and prediction of potential therapeutic targets in pancreatic cancer
IntroductionPancreatic cancer is a highly aggressive cancer, and early diagnosis significantly improves patient prognosis due to the early...
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Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
Idiopathic autism spectrum disorder (ASD) is highly heterogeneous, and it remains unclear how convergent biological processes in affected individuals...
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Multilayer omics reveals the molecular mechanism of early infection of Clonorchis sinensis juvenile
BackgroundClonorchiasis remains a non-negligible global zoonosis, causing serious socioeconomic burdens in endemic areas. Clonorchis sinensis ...
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DNA methylation sites in early adulthood characterised by pubertal timing and development: a twin study
BackgroundPuberty is a highly heritable and variable trait, with environmental factors having a role in its eventual timing and development. Early...
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Assessing awareness of blood cancer symptoms and barriers to symptomatic presentation: measure development and results from a population survey in the UK
BackgroundLow levels of cancer awareness may contribute to delays in seeking medical help and subsequent delays in diagnosis. For blood cancer this...
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Critical role of Rho proteins in myosin light chain di-phosphorylation during early phase of endothelial barrier disruption
We previously reported the Rho-associated coiled-coil containing protein kinase (ROCK)-mediated di-phosphorylation of myosin light chain (MLC) and...
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Effect of prenatal and early post-natal oxycodone exposure on the reinforcing and antinociceptive effects of oxycodone in adult C57BL/6 J mice
AbstractAbuse of opioids (mu-opioid agonists such as oxycodone) among parents during the gestation and early post-natal period is a concern for the...
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Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency
BackgroundAutosomal recessive (AR) PKCδ deficiency is a rare inborn error of immunity (IEI) characterized by autoimmunity and susceptibility to...
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Radiomic predicts early response to CDK4/6 inhibitors in hormone receptor positive metastatic breast cancer
The combination of Cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) and endocrine therapy (ET) is the standard of care for hormone receptor-positive...
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Quantitative transport map** of multi-delay arterial spin labeling MRI detects early blood perfusion alterations in Alzheimer’s disease
BackgroundQuantitative transport map** (QTM) of blood velocity, based on the transport equation has been demonstrated higher accuracy and...
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Presentation of breast cancer, help seeking behaviour and experience of patients in their cancer journey in Singapore: a qualitative study
BackgroundLittle is known about the presentation, help seeking behaviour for breast cancer in Singapore. Nor was there a study exploring the...
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Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disease globally, with a fast-growing prevalence. The etiology of PD exhibits...
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Prediction of methylation status using WGS data of plasma cfDNA for multi-cancer early detection (MCED)
BackgroundCell-free DNA (cfDNA) contains a large amount of molecular information that can be used for multi-cancer early detection (MCED), including...
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Autonomic dysreflexia and concurrent Horner’s Syndrome: a rare presentation in a patient with spinal cord injury
IntroductionAutonomic dysreflexia is an uninhibited sympathetic response evoked by a strong sensory input below the level of the injury in patients...
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Repetition Suppression for Familiar Visual Words Through Acceleration of Early Processing
The visual N1 (N170) component with occipito-temporal negativity and fronto-central positivity is sensitive to visual expertise for print. Slightly...
