Results 191 to 200 of about 1,544,983 (360)
MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis +12 more
wiley +1 more source
COVID‐19 and myasthenia gravis: A review of neurological implications of the SARS‐COV‐2
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Abstract Introduction This review highlights the potential mechanisms of neuromuscular manifestation of COVID‐19, especially myasthenia gravis (MG). Methods An extensive literature search was conducted by two independent investigators using PubMed/MEDLINE and Google Scholar from its inception to December 2020. Results Exacerbations of clinical symptoms
Syed Muhammad Ismail Shah +10 more
wiley +1 more source
Characteristics of Students Entering Eastern Illinois University Fall, 1965 [PDF]
, 1967 Fever, Leo William
core +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson +14 more
wiley +1 more source
Brain and Behavior, Volume 12, Issue 12, December 2022., 2022 Abstract Aim The aims of this pilot study were to investigate the levels of biomarkers of microglial/macrophage activation—YKL‐40, sCD163, and sCD14—in patients with neuromyelitis optica spectrum disorder (NMOSD) and determine the possible associations between these biomarkers and Expanded Disability Status Scale (EDSS) scores.
Jinghong Li +3 more
wiley +1 more source
Journal of Arthropod-Borne Diseases, 2016 Background: This comprehensive study was conducted on multi-purpose one-humped camel (Camelus dromedarius) sera and ticks to assess the epidemiological aspects of the Crimean-Congo hemorrhagic fever virus (CCHFV) in northeast Iran. Methods: From May 2012
Mohsen Champour +7 more
doaj
SPIROCHÆTA HEBDOMADIS, THE CAUSATIVE AGENT OF SEVEN DAY FEVER (NANUKAYAMI) [PDF]
, 1918 Yutaka Ido, Hiroshi Ito, Hidetsune Wani
openalex +1 more source
, 2010 Abstract Louse-borne relapsing fever and tick-borne relapsing fever are characterized by repeated episodes of high fever separated by afebrile periods. They are caused by Borrelia spirochaetes distinct from those responsible for Lyme borrelioses.
openaire +3 more sources
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
COVID‐19, ESG investing, and the resilience of more sustainable stocks: Evidence from European firms
Business Strategy and the Environment, Volume 32, Issue 1, Page 602-623, January 2023., 2023 Abstract Following the COVID‐19 outbreak, orientation toward sustainability is a critical factor in ensuring firm survival and growth. Using a large sample of 1,204 firms in Europe during the year 2020, this study investigates how more sustainable firms fare during the pandemic compared with other firms in terms of risk–return trade‐off and stock ...
Giovanni Cardillo +2 more
wiley +1 more source