Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Auditor models to suppress poor artificial intelligence predictions can improve human-artificial intelligence collaborative performance. [PDF]
J Am Med Inform AssocBrown KE +7 more
europepmc +1 more source
Impact of training and development on Auditors performance
المجلة العربية للعلوم الإنسانية والاجتماعيةلكل مؤسسة جودة مواردها البشرية هي أحد الأصول وكذلك عامل نجاح، وبالتالي، يجب على كل منظمة استثمار الوقت والموارد للتحسين من جودة قوتها العاملة. واحدة من أكثر الطرق فعالية لتحقيق ذلك هي من خلال التدريب. يؤثر التدريب على الأداء الوظيفي بطريقة إيجابية ، يعمل التدريب على تحسين مهارات ومعارف وقدرات الموظفين ، مما يجعل الموظفين أكثر كفاءة في مكان ...
openaire +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Performance audit, Arizona Department of Revenue : a report to the Arizona Legislature
, 2015 : Department should improve its information technology security, continue developing its information security program, and enhance the physical security of taxpayer informationReport (Arizona.
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Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants
Annals of Clinical and Translational Neurology, EarlyView.Multiple Sclerosis Relapse Activity After Ozanimod Discontinuation in DAYBREAK Trial Participants. ABSTRACT Objective Return of disease activity is expected when patients discontinue disease‐modifying therapy (DMT) for multiple sclerosis (MS). Some MS DMTs are associated with higher‐than‐expected disease activity (rebound) after discontinuation.
Ralf Gold +12 more
wiley +1 more source
, 2015 : The ASRS defined benefit plan is not fully funded, but steps have been taken to improve its long-term sustainability and some additional actions can further strengthen its financial condition.Report (Arizona.
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Forecasting auditor's going concern opinion using with hybrid robust machine learning model. [PDF]
PLoS OneEjder U, Yaşar A.
europepmc +1 more source
CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao +7 more
wiley +1 more source
Performance audit, Arizona Department of Transportation : a report to the Arizona Legislature
, 2015 : Projected transportation revenues fall short of estimated needs and the Arizona Legislature should consider a task force to study options for addressing transportation revenue needsReport (Arizona.
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