Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism? حسب Satoshi Sakaue (19725322)

"…<p dir="ltr">Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. …"

Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient حسب Sanaa Sharari (12561952)

"…It is inherited as an autosomal recessive disorder caused by mutations in the SLC2A2 gene, which encodes for GLUT2. Patients with FBS have dysglycemia but the molecular mechanisms of dysglycemia are still not clearly understood. …"

The Impact of Fake News on Brands and Social Media. (c2018) حسب Mahdi, Ali

"…The transcribed data were coded using NVivo and thematic analysis was performed. …"
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Towards a BPEL model-driven approach for web services security حسب Tout, Hanine

"…The key solution cannot be seen as a simple embed of security properties in the source code of the business logic since the dynamism of the BPEL process will be affected when the security measures get updated. …"
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Performance of roof tiles under simulated hurricane impact حسب Abishdid, Caesar

"…Widespread damage to tile roofs over the last few years, even for weaker hurricanes, has raised concerns regarding construction practices and codes. An experimental study was carried out for clay and concrete roof tiles with adhesive- and mortar-set attachments using a “Wall of Wind” apparatus. …"
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Advocating for the Rights of Sexual Minorities within a Sectarian System حسب Abdel Khalek, Mazen

"…This thesis shows how political sectarianism, in addition to a fragmented LGBTIQ+ community, the communitarian/minority discourse used by LGBTIQ+ NGOs and a penal code that criminalizes “unnatural-sex”, all hinder the advancement of the rights of LGBTIQ+ individuals. …"
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A Mediation Layer for Connecting Data-Intensive Applications to Reconfigurable Data Nodes حسب Jomaa, Mohamad

"…In order to provide high performance in terms of time and functionality, the middleware manages the data processing on the RASSD nodes through special pieces of code that we call drivelets, along with FPGA configuration files (bitstreams). …"
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Women on boards, sustainability reporting and firm performance حسب Arayssi, Mahmoud

"…The empirical findings contribute to providing statistical and economical validity to the UK Corporate Governance Code 2014 recommendation on the importance of board gender diversity for effective board functioning.…"
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Modeling Software System Interactions Using Temporal Graphs and Graph Neural Networks حسب Germanos, Manuella

"…One challenge when modifying code - whether to patch a bug or add a feature- is being aware of which components will be affected by the change and amending possible misbehavior. …"
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Linkages between Number Concepts, Spatial Thinking, and Directionality of Writing حسب Zebian, Samar

"…These associations between number and space have been termed the Spatial Numeric Association Response Code Effect (SNARC effect, Dehaene, 1992). The current study investigates the spatial orientation of the mental number line in the following groups: English monoliterates, Arabic monoliterates who use only the right-left writing system, Arabic-English biliterates, and illiterate Arabic speakers who only read numerals. …"
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“They said we ruined the character and our religion”: authenticity and legitimation of hijab cosplay حسب El Jurdi, Hounaida

"…Given authenticity is central to the cosplay visual impact and performance, this study aims to understand the way hijab cosplayers negotiate tensions between authentic body performativity and the observance of religious dressing codes. Design/methodology/approach A qualitative interpretive approach was used to address the research questions. …"
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Effect of climate change on the energy performance and thermal comfort of high-rise residential buildings in cold climates حسب Mutasim Baba, Fuad

"…This paper investigates the effect of climate change on the energy performance and thermal comfort of a high-rise residential building with different energy characteristic levels, i.e. bylaw to meet current National Energy Code of Canada for Buildings (NECB), and passive house (PH) under two climate zones in British Columbia, Canada. …"
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Genotypic and phenotypic characterization of Candida albicans Lebanese hospital isolates resistant and sensitive to caspofungin حسب Toutounji, Maggie

"…Recently reports of resistance to caspofungin have been reported mainly through mutations in the FKS encoded subunits of glucan synthase at hot spot 1 (amino acids 641 to 649, FSTLSLRDP) and hot spot 2 (amino acids 1357 to 1364, DWIRRYTL). …"
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Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients حسب Julia Doll (5237840)

"…<p dir="ltr">CDC14A encodes the Cell Division Cycle 14A protein and has been associated with autosomal recessive non-syndromic hearing loss (DFNB32), as well as hearing impairment and infertile male syndrome (HIIMS) since 2016. …"

A SLC16A1 Mutation in an Infant With Ketoacidosis and Neuroimaging Assessment: Expanding the Clinical Spectrum of MCT1 Deficiency حسب Sara Al-Khawaga (4792761)

"…<p dir="ltr">The solute carrier family 16 member 1 (<i>SLC16A1</i>) gene encodes for monocarboxylate transporter 1 (MCT1) that mediates the movement of monocarboxylates, such as lactate and pyruvate across cell membranes. …"

Online Recruitment Fraud (ORF) Detection Using Deep Learning Approaches حسب Natasha Akram (20749538)

"…In recent studies, traditional machine learning and deep learning algorithms have been implemented to detect fake job postings; this research aims to use two transformer-based deep learning models, i.e., Bidirectional Encoder Representations from Transformers (BERT) and Robustly Optimized BERT-Pretraining Approach (RoBERTa) to detect fake job postings precisely. …"

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease–Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice حسب Nerea Alonso (1897801)

"…<p dir="ltr">Early onset familial Paget's disease of bone (EoPDB), familial expansile osteolysis, and expansile skeletal hyperphosphatasia are related disorders caused by insertion mutations in exon 1 of the TNFRSF11A gene, which encodes receptor activator of nuclear factor κB (RANK) protein. …"

Novel Synonymous Variant in<i> IL7R</i> Causes Preferential Expression of the Soluble Isoform حسب Rafah Mackeh (14151225)

"…Our functional studies indicate that this variant is pathogenic, causing exon 6, which encodes the transmembrane domain, to be preferentially spliced out.…"

CRISPR-Cas Controls Cryptic Prophages حسب Sooyeon Song (4891132)

"…In addition, lysis is clearly seen via transmission electron microscopy when the whole CRISPR-Cas array is deleted, and eliminating spacer #12, which encodes crRNA with complementary regions for DLP-12 (including rzoD), Rac, Qin (including ydfD), and CP4-57 cryptic prophages, also results in growth inhibition and cell lysis. …"

Therapeutic and diagnostic applications of exosomal circRNAs in breast cancer حسب Mohanraj Gopikrishnan (17773449)

"…Recently, circRNAs can encode peptides that play a role in the pathophysiology of breast cancer and other diseases and their potential as diagnostic biomarkers and therapeutic targets for various cancers including breast cancer. …"