Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24216
Abstract: The high clinical and genetic heterogeneity makes it difficult to reach a confirmative diagnosis of suspected pediatric respiratory inherited diseases. Many patients with monogenic respiratory disorders could be missed without genetic testing. We performed a… read more here.
Keywords: medicine; first tier; tier test; pediatric respiratory ... See more keywords
Should oral exposure in Hypoaspis aculeifer tests be considered in order to keep them in Tier I test battery for ecological risk assessment of PPPs?
Sign Up to like & getrecommendations! Published in 2019 at "Environmental pollution"
DOI: 10.1016/j.envpol.2018.10.113
Abstract: The laboratory reproduction test with the predatory mite Hypoaspis aculeifer is currently a mandatory test in the new EU data requirements for prospective environmental risk assessment of Plant Protection Products (PPPs). However, the low sensitivity… read more here.
Keywords: test battery; risk assessment; hypoaspis aculeifer; tier test ... See more keywords
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test
Sign Up to like & getrecommendations! Published in 2022 at "Hormone Research in Paediatrics"
DOI: 10.1159/000524170
Abstract: Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on 17-hydroxyprogesterone (17-OHP) concentration in dried blood spots has been taking place in North-Eastern Italy since 2001. Since 2017, liquid chromatography-tandem mass spectrometry (LC-MS/MS) has been… read more here.
Keywords: adrenal hyperplasia; second tier; congenital adrenal; tier test ... See more keywords
Promoting Students’ Programming Logic and Problem-Solving Awareness With Precision Feedback: A Two-Tier Test-Based Online Programming Training Approach
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Educational Computing Research"
DOI: 10.1177/07356331221087773
Abstract: Fostering students' computer programming skills has become an important educational issue in the globe. However, it remains a challenge for students to understand those abstract concepts when learning computer programming, implying the need to provide… read more here.
Keywords: test based; computer programming; two tier; approach ... See more keywords
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12040560
Abstract: Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been… read more here.
Keywords: exome sequencing; first tier; tier test; evidence ... See more keywords