Copenhagen Central School District and Copenhagen Central School Teachers Association (2004) [PDF]
core +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Prevalence, risk factors, management strategies and consequences of work-related musculoskeletal disorders among dental students and professionals in Makkah, Saudi Arabia: a cross-sectional study. [PDF]
Nassar AA +5 more
europepmc +1 more source
Dolgeville Central School District and Dolgeville Teaching Assistants (1998) [PDF]
core +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
West Genesee Central School District and West Genesee United Paraprofessionals Association (2012) (MOA) [PDF]
core +1 more source
ABSTRACT Over almost two decades, young people's employment opportunities have been significantly impacted by events like the Global Financial Crisis (2008–2009) and the COVID‐19 pandemic (2020‐). Thus, underemployment has become a more pervasive and persistent feature of young people's labour market experiences. This research focuses on three forms of
Brendan Churchill
wiley +1 more source
Prevalence and occupational risk of hip osteoarthritis and rotator cuff lesions - claims data analysis. [PDF]
Hagenström K +4 more
europepmc +1 more source
Freeport Union Free School District and Freeport Teacher Aide and Assistants Association (2014) [PDF]
core +1 more source
Based on a dermis fibroblast Gorab knockout mouse model, this study revealed that Gorab deficiency promotes skin aging by influencing RCHY1, causing a decrease in P53 ubiquitination, damaging the activity of HDAC2, further resulting in the accumulation of aging‐related proteins (P53, P21, P16) and a reduction in extracellular matrix (ECM) components ...
Yanhong Li +7 more
wiley +1 more source

