Results 41 to 50 of about 67,614 (310)
SERAMİK SEKTÖRÜNDE ÇEVRE KOŞULLARININ ANALİZİ
Eskişehir Osmangazi Üniversitesi Mühendislik ve Mimarlık Fakültesi Dergisi, 2020 Environmental conditions have an essential importance in terms of occupational health and productivity in each sector. It is very difficult to keep environmental conditions within the specified ideal limits due to the processes carried out in
Emin KAHYA
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Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Applied Sciences, 2019 After the results from a research project with former students of the university were published in Applied Sciences [...]
Sadok Rezig, Zied Achour, Nidhal Rezg
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Angelman syndrome (AS, MIM 105830) [PDF]
European Journal of Human Genetics, 2009 Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The phenotype is well known in infancy and adulthood, but the clinical features may change with age. The main clinical characteristics include severe mental retardation, epileptic seizures and EEG abnormalilties, neurological problems and distinct facial dysmorphic ...
Griet, Van Buggenhout +1 more
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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
PathVisio-MIM: PathVisio plugin for creating and editing Molecular Interaction Maps (MIMs) [PDF]
Bioinformatics, 2011 Abstract Motivation: A plugin for the Java-based PathVisio pathway editor has been developed to help users draw diagrams of bioregulatory networks according to the Molecular Interaction Map (MIM) notation. Together with the core PathVisio application, this plugin presents a simple to use and cross-platform application for the ...
Augustin Luna +4 more
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FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee +7 more
wiley +1 more source
EJNMMI Research, 2023 Background Dosimetry promises many advantages for radiopharmaceutical therapies but repeat post-therapy imaging for dosimetry can burden both patients and clinics.
Avery B. Peterson +2 more
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Biology of Sport, 2021 We examined the degree to which 200-m and 400-m Individual Medley (IM) performance was related to sprint-, middle- and long-distance events before a swimmer reached a Top-20 world ranking. A retrospective longitudinal modelling study was conducted.
Jose A Del Castillo +4 more
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Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source