Pitfalls in Genetic Testing for Consanguineous Pediatric Populations [PDF]
Case Reports in Genetics, 2022 We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance ...
Maha Saleh +5 more
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IRAK'TA ASURİ/NASTURİ OLAYLARI VE TÜRKİYE'YE ETKİLERİ (1933)
History Studies, 2023 Hakkâri Nasturileri, I. Dünya Savaşı’nın başlamasının ardından bağımsızlık ümidine kapılarak Osmanlı’ya karşı Rusya’nın yanında yer almış ve Müslümanlara karşı katliamlara girişmiştir.
Yunus Pustu
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A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report [PDF]
Frontiers in Neurology, 2023 BackgroundMolybdenum cofactor deficiency (MoCD) (OMIM# 252150) is an autosomal-recessive disorder caused by mutations in four genes involved in the molybdenum cofactor (MOCO) biosynthesis pathway.ObjectivesWe report a milder phenotype in a patient with ...
Montaha Almudhry +14 more
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Journal of Minimal Access Surgery, 2021 Laparoscopic suture transfixation and free tie ligation are the most commonly used cost-effective technique of managing the base of the appendix during laparoscopic appendectomy in low resource settings such as India.
Krishna Asuri, Mayank Jain
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Modeling the Additive Effects of Nanoparticles and Polymers on Hydrogel Mechanical Properties Using Multifactor Analysis [PDF]
Nanomaterials, 2022 Interpenetrating networks (IPN)s have been conceived as a biomimetic tool to tune hydrogel mechanical properties to the desired target formulations. In this study, the rheological behavior of acrylamide (AAm) [2.5–10%] hydrogels crosslinked with N,N ...
Emma Barrett-Catton +3 more
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Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives [PDF]
Frontiers in NutritionCobalamin (vitamin B12) is a vitamin with a defined role in human metabolism. Since its discovery in the 20th century, our understanding of its deficiency that results in multifaceted disorders with a significant impact on neurological health has evolved.
Arushi Gahlot Saini +2 more
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Infantile epileptic spasm syndrome: predictors of short- and long-term outcomes [PDF]
Frontiers in PediatricsIntroductionInfantile epileptic spasm syndrome (IESS) has significant impact on affected children that affects their future seizure control and neurodevelopmental outcomes. The aim of this study is to identify potential short- and long-term predictors of
Mohammed A. Al-Omari +7 more
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Çağdaş Türk Tarihyazımında Muhalif Bir Anlatı Olarak Süryani / Asuri Sözlü Tarihi
Mukaddime, 2016 Bu çalışma, Türkiye’de Süryani sözlü tarihini Cumhuriyet dönemi devletçi tarihyazımına karşı muhalif bir anlatı olarak değerlendirmektedir. Bu çalışma, sözlü ve yerel tarihleri Süryani toplumu üzerine yazılmış olan daha geniş arşivin ve tarihsel ...
Ramazan Aras
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Stem cell-based approaches for developmental neurotoxicity testing [PDF]
Frontiers in ToxicologyNeurotoxicants are substances that can lead to adverse structural or functional effects on the nervous system. These can be chemical, biological, or physical agents that can cross the blood brain barrier to damage neurons or interfere with complex ...
Joy Ku, Prashanth Asuri
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Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series [PDF]
Frontiers in Neurology, 2023 BackgroundMitochondrial DNA (mtDNA) depletion syndromes (MDDS) are genetically and clinically variable disorders resulting from a reduction in mtDNA content in the cells, tissues, and organ systems, leading to symptoms related to energy deficits ...
Montaha Almudhry +19 more
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