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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
(SPRINGERNATURE, 2022)
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases ...
Current molecular and therapeutic advances in liposarcoma, rhabdomyosarcoma, leiomyosarcoma, synovial sarcoma, and angiosarcoma
(SAGE Publications Ltd, 2022)
Sarcomas probably develop after malignant transformation of embryonic mesenchymal cells and have broad spectrum histopathologically since they can develop from striated skeletal muscle and smooth muscle, fat and fibrous ...
The Etiology, Clinical Features, and Severity of Anaphylaxis in Childhood by Age Groups
(Karger, 2022)
Introduction: Anaphylaxis is a severe, potentially fatal systemic hypersensitivity reaction with an acute onset. Etiology, clinical presentation, risk factors, comorbidities of pediatric anaphylaxis may vary depending on ...
Prospective registry of adult patients receiving therapeutic plasma exchange with a presumptive diagnosis of thrombotic microangiopathy (TMA): The Turkish hematology research and education group (ThREG)-TMA02 study
(PERGAMON-ELSEVIER SCIENCE LTD, 2022)
To understand who uses social media and how often they do so, we examined the personality traits that predict frequency of using a set of 10 different types of social media (e.g., social networks, blogs, virtual worlds). ...
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders
(SPRINGERNATURE, 2022)
Neurodevelopmental disorders...
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration
(Cell Press, 2022)
Tight regulation of mRNA isoform expression is essential for neuronal development, maintenance, and function; however, the repertoire of proteins that govern isoform composition and abundance remains incomplete. Here, we ...
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
(ELSEVIER, 2022)
Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency ...
Total Aplasia of Paranasal Sinus Associated With a Syndromic Condition
(ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS, 2022)
Total aplasia of paranasal sinus (TAPS) is extremely rare, although the fact that partial aplasia is very common. TAPS seems to be limited to only 5 case reports in the literature until now. We present the case of a ...
Evaluation of the Clinical Characteristics of Patients with Food Protein-Induced Enterocolitis Syndrome: A Multicenter Study
(KARGER, 2022)
Introduction: Food protein-induced enterocolitis syndrome (FPIES) is a rare non-IgE, cell-mediated food allergy disorder. We aimed to report the demographic characteristics, clinical features, and management of pediatric ...
Comparison of Older Primary Healthcare Workers with Non-Older Workers in Terms of Working Life, Quality of Life and Health Problems in Turkey
(Pleiades journals, 2022)
Abstract: With the rapid growth of aging all over the world, it was reported that the proportion of older workers in employment would increase. It was aimed to comparison of older primary healthcare workers with non-older ...