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Toplam kayıt 282, listelenen: 11-20
Genes For Spinocerebellar Ataxia With Blindness And Deafness (Scabd/Scar3, Mim# 271250 And Scabd2)
(Nature Publishing Group, 2016)
Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 ...
Gender Differences In Defense Mechanisms, Ways Of Coping With Stress And Sense Of Identity In Adolescent Suicide Attempts
(Turkish J Pediatrics, 2016)
The main aim of this study was to investigate the gender differences in defense mechanisms, ways of coping with stress and identity formation in relation to adolescent suicidal behavior. This study involved 64 adolescents ...
Loss-Of-Function Mutations in Elmo2 Cause Intraosseous Vascular Malformation by Impeding Rac1 Signaling
(Cell Press, 2016)
Vascular malformations are non-neoplastic expansions of blood vessels that arise due to errors during angiogenesis. They are a heterogeneous group of sporadic or inherited vascular disorders characterized by localized ...
Biallelic Hypomorphic Mutations In A Linear Deubiquitinase Define Otulipenia, An Early-Onset Autoinflammatory Disease
(Natl Acad Sciences, 2016)
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a ...
Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism
(2016)
Objective: Deficiency of sex steroids has a negative impact on bone mineral content. In studies conducted on postmenopausal women and animal studies, elevated follicle-stimulating hormone (FSH) levels were found to be ...
Comparison Of The Efficacy Of Once- And Twice-Daily Colchicine Dosage In Pediatric Patients With Familial Mediterranean Fever – A Randomized Controlled Noninferiority Trial
(2016)
Background In this study, we examined the efficacy and safety of a once-daily dosage schema of colchicine compared with a twice-daily dosage schema in pediatric patients with familial Mediterranean fever (FMF). Methods In ...
Congenital Mirror Movements In Gorlin Syndrome: A Case Report With Dti And Functional Mri Features
(Amer Acad Pediatrics, 2016)
Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi ...