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Toplam kayıt 2920, listelenen: 41-60
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A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ... -
A Comprehensive Simulation Study On Classification Of Rna-Seq Data
(2017)RNA sequencing (RNA-Seq) is a powerful technique for the gene-expression profiling of organisms that uses the capabilities of next-generation sequencing technologies. Developing gene-expression-based classification algorithms ... -
A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused By Defective De Novo Phosphatidylcholine Biosynthesis
(Cell Press, 2011)Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been ... -
A Critical Overview of The Imaging Arm of The Asas Criteria For Diagnosing Axial Spondyloarthritis: What The Radiologist Should Know
(Turkish Soc Radiology, 2012)The Assessment in SpondyloArthritis international Society (ASAS) defined new criteria in 2009 for the classification of axial spondyloaithritis (SpA) in patients with >= 3 months of back pain who were aged <45 years at the ... -
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ... -
A Cross-Over Medication Trial For Patients With Autosomal-Dominant Hypertension With Brachydactyly
(Blackwell Science Inc, 1998)We examined a family with autosomal-dominant hypertension and brachydactyly from northeastern Turkey. The hypertension was defined as severe, resulting in stroke before age 50 years, featuring normal renin, aldosterone, ... -
A Current Analysis Of Caregivers' Approaches To Fever And Antipyretic Usage
(J Infection Developing Countries, 2014)Introduction: The aim of this survey was to investigate the current knowledge, attitudes, and practices of febrile children's caregivers about fever, antipyretic usage, and temperature measurement methods in a tertiary ... -
A Demineralized Calf Vertebra Model As An Alternative To Classic Osteoporotic Vertebra Models For Pedicle Screw Pullout Studies
(Springer, 2008)Screws, clamps and other spinal instrumentation materials are tested using healthy animal and healthy human vertebrae, but the application of similar tests to an osteoporotic vertebra is generally neglected because of high ... -
A Dna-Pkcs Mutation in A Radiosensitive T-B- Scid Patient Inhibits Artemis Activation And Nonhomologous End-Joining
(Amer Soc Clinical Investigation Inc, 2009)Radiosensitive T-B- severe combined immunodeficiency (RS-SCID) is caused by defects in the nonhomologous end-joining (NHEJ) DNA repair pathway, which results in failure of functional V(D)J recombination. Here we have ... -
A Double-Blind, Placebo Controlled, Cross-Over Trial of Adjunctive Donepezil For Cognitive Impairment In Schizophrenia
(Oxford Univ Press, 2004)Although there have been several case reports suggesting the beneficial effect of acetylcholinesterase inhibitors in the cognitive deficits seen in schizophrenia, controlled studies have revealed contradictory results. The ... -
A European Organization for Research and Treatment of Cancer - International Antimicrobial Therapy Group Study of Secondary Infections in Febrile, Neutropenic Patients with Cancer
(Univ Chicago Press, 2005)Background. Neutropenic patients with cancer may develop several episodes of fever and infection during chemotherapy-induced myeloaplasia. Methods. To identify risk factors for secondary infectious episodes among patients ... -
A European Survey of Antibiotic Management of Methicillin-Resistant Staphylococcus Aureus Infection: Current Clinical Opinion and Practice
(Wiley-Blackwell, 2010)Although the epidemiology of methicillin-resistant Staphylococcus aureus (MRSA) varies across Europe, healthcare-associated MRSA infections are common in many countries. Despite several national guidelines, the approach ... -
A Fully Liquid Dtap-Ipv-Hb-Prp-T Hexavalent Vaccine for Primary and Booster Vaccination of Healthy Turkish Infants and Toddlers
(Tubitak Scientific & Technical Research Council Turkey, 2017)Background/aim: Immunogenicity and safety of a primary series of a fully liquid, hexavalent DTaP-IPV-HB-PRP-T vaccine given at 2, 3, and 4 months of age compared to licensed comparators and a DTaP-IPV-HB-PRP-T booster at ... -
A Gene for Congenital Generalized Lipodystrophy Maps to Human Chromosome 9Q34
(Endocrine Soc, 1999)Congenital generalized lipodystrophy (CGL, Berardinelli-Seip Syndrome, OMIM # 269700) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Affected individuals have ... -
A Giant Short Arm Of No. 21 Chromosome In Mother Of 21/21 Translocation Mongol
(British Med Journal Publ Group, 1976) -
A Homologous Genetic Basis of the Murine Cpfl1 Mutant and Human Achromatopsia Linked to Mutations in the Pde6C Gene
(Natl Acad Sciences, 2009)Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive ... -
A Large Turkish Kindred with Syndactyly Type-II (Synpolydactyly) .1. Field Investigation, Clinical and Pedigree Data
(British Med Journal Publ Group, 1995)A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven ...