A novel loss-of-function mutation in MCMDC2 is associated with male infertility. [PDF]
Cohen O +6 more
europepmc +1 more source
Regional Shopping Objectives in British Grocery Retail Transactions Using Segmented Topic Models
ABSTRACT Understanding the customer behaviours behind transactional data has high commercial value in the grocery retail industry. Customers generate millions of transactions every day, choosing and buying products to satisfy specific shopping needs.
Mariflor Vega Carrasco +4 more
wiley +1 more source
Variant identification and genotyping strategy for the <i>smg-1(r861)</i> allele in <i>Caenorhabditis elegans</i>. [PDF]
Zoberman M, Calarco JA.
europepmc +1 more source
Why We Need to Study Assisted Methods to Teach Typing to Nonspeaking Autistic People
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
Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome. [PDF]
Hirai S, Mitsubuchi H, Matsumoto S.
europepmc +1 more source
Prescribing competence: The pros and cons of different methods for assessment
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
A case of childhood hyperekplexia due to a novel nonsense variant in the GLRA1 gene. [PDF]
Lin SZ, Sun XY, Tan YY, Qi YF, Jiang K.
europepmc +1 more source
Listening to Hong Kong children's perspectives through pretend play
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
Abstract This paper challenges the prevailing assumption that technology‐enhanced learning (TEL) inherently benefits all students in higher education, examining how undergraduate students with specific learning differences (SpLDs) and/or autism spectrum disorder (ASD) use technology for learning.
Alexia Achtypi +3 more
wiley +1 more source
Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features. [PDF]
Huang Y +8 more
europepmc +1 more source

