Mutations in genes involved in nonsense mediated decay ameliorate the phenotype of sel-12 mutants with amber stop mutations in Caenorhabditis elegans [PDF]
, 2009 Alisson M. Gontijo +3 more
openalex +1 more source
Autism Research, EarlyView.ABSTRACT Bilingualism has been associated with enhanced metalinguistic awareness (MA), the ability to reflect upon language. However, findings remain mixed, and little is known about how proficiency in the most proficient (L1) and second‐best language (L2) contribute to MA, especially in children with autism spectrum disorder (ASD), who often present ...
Pauline Wolfer +2 more
wiley +1 more source
Statistical Genetics of <i>DMD</i> Gene Mutations in a Kazakhstan Cohort: MLPA/NGS Variant Validation and Genotype-Phenotype Modelling. [PDF]
Genes (Basel)Moldakaryzova A +4 more
europepmc +1 more source
Why We Need to Study Assisted Methods to Teach Typing to Nonspeaking Autistic People
Autism Research, EarlyView.ABSTRACT At least one third of autistic people have limited or no speech. Most nonspeaking autistic people are never provided alternatives that would enable the full range of expression that speech allows, significantly limiting their access to educational, social, and employment opportunities.
Vikram K. Jaswal +4 more
wiley +1 more source
Case Report: genotype-phenotype correlations in <i>FLNA</i> mutations: insights from a case of multisystem dysfunction. [PDF]
Front GenetLiu J, Pan X, Qiao L, Liao Y, Liu Z.
europepmc +1 more source
Trust and Distrust: On Sense and Nonsense in Big Data
, 2019 Stefan Raß +2 more
openalex +2 more sources
A nonsense (c.3978G>A) abnormal spindle-like, microcephaly associated (ASPM) gene mutation is a major cause of primary microcephaly in Pashtoon ethnic group of Pakistan [PDF]
, 2011 Shamim Saleha +4 more
openalex +1 more source
Prescribing competence: The pros and cons of different methods for assessment
British Journal of Clinical Pharmacology, EarlyView.Evaluating a medical graduate’s competence in rational prescribing is challenging. With the aim to guide and inspire teachers, this narrative review explores different methods that can be used to assess prescribing competence. Each method has its own advantages and disadvantages, and thus a mix of different assessment methods is needed throughout the ...
David J. Brinkman +3 more
wiley +1 more source
Listening to Hong Kong children's perspectives through pretend play
British Educational Research Journal, EarlyView.Abstract Quality in early childhood education and care (ECEC) has become an increasing concern in recent years. The issue has been regularly discussed by different stakeholders. However, the rising concern regarding quality in ECEC has not seriously taken into account children's perspectives.
Suzannie K. Y. Leung
wiley +1 more source
Ecological meta-analyses often produce unwarranted results. [PDF]
EcologyPeacor SD +5 more
europepmc +1 more source