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Toplam kayıt 29279, listelenen: 10919-10938

    • Genetic Basis Of Hyperlysinemia 

      Houten, Sander M; te Brinke, Heleen; Denis, Simone; Ruiter, Jos PN; Knegt, Alida C; de Klerk, Johannis BC; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R; Coşkun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald JA; Duran, Marinus (2013)
      Background Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...

    • Genetic Diagnosis By Whole Exome Capture And Massively Parallel Dna Sequencing 

      Choi, Murim; Scholl, Ute I.; Ji, Weizhen; Liu, Tiewen; Tikhonova, Irina R.; Zumbo, Paul; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Sanjad, Sami; Nelson-Williams, Carol; Farhi, Anita; Mane, Shrikant; Lifton, Richard P. (Natl Acad Sciences, 2009)
      Protein coding genes constitute only approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete ...

    • Genetic Diversity In Populations Of Isatis Glauca Aucher Ex Boiss. Ssp. From Central Anatolia In Turkey, As Revealed By Aflp Analysis 

      Özbek, Özlem; Görgülü, Elçin; Yıldırımlı, Şinasi (2013)
      Background Isatidae L. is a complex and systematically difficult genus in Brassicaceae. The genus displays great morphological polymorphism, which makes the classification of species and subspecies difficult as it is ...

    • Genetic Evidence For Plasminogen As A Shared Genetic Risk Factor Of Coronary Artery Disease And Periodontitis 

      Schaefer, Arne S.; Bochenek, Gregor; Jochens, Arne; Ellinghaus, David; Dommisch, Henrik; Guezeldemir-Akcakanat, Esra; Graetz, Christian; Harks, Inga; Jockel-Schneider, Yvonne; Weinspach, Knut; Meyle, Joerg; Eickholz, Peter; Linden, Gerry J.; Cine, Naci; Nohutcu, Rahime; Weiss, Ervin; Houri-Haddad, Yael; Iraqi, Fuad; Folwaczny, Mathias; Noack, Barbara; Strauch, Konstantin; Gieger, Christian; Waldenberger, Melanie; Peters, Annette; Wijmenga, Cisca; Yilmaz, Engin; Lieb, Wolfgang; Rosenstiel, Philip; Doerfer, Christof; Bruckmann, Corinna; Erdmann, Jeannette; Koenig, Inke; Jepsen, Soren; Loos, Bruno G.; Schreiber, Stefan (Lippincott Williams & Wilkins, 2015)
      Background-Genetic studies demonstrated the presence of risk alleles in the genes ANRIL and CAMTA1/VAMP3 that are shared between coronary artery disease (CAD) and periodontitis. We aimed to identify further shared genetic ...

    • Genetic Landscape Of Congenital Myasthenic Syndromes From Turkey: Novel Mutations And Clinical Insights 

      Yis, Uluc; Becker, Kerstin; Kurul, Semra Hiz; Uyanik, Goekhan; Bayram, Erhan; Haliloglu, Goknur; Polat, Ayse Ipek; Ayanoglu, Muge; Okur, Derya; Tosun, Ayse Fahriye; Serdaroglu, Gul; Yilmaz, Sanem; Topaloglu, Haluk; Anlar, Banu; Cirak, Sebahattin; Engel, Andrew G. (Sage Publications Inc, 2017)
      Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the ...

    • Genetic Linkage Study Of Familial Mediterranean Fever (Fmf) To 16P13.3 And Evidence For Genetic Heterogeneity In The Turkish Population 

      Akarsu, AN; Saatci, U; Ozen, Seza; Bakkaloglu, A; Besbas, N; Sarfarazi, M (British Med Journal Publ Group, 1997)
      Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families ...

    • Genetic Polymorphism Of Manganese Superoxide Dismutase In Behcet'S Disease 

      Uz, Efkan; Yilmaz, H. Ramazan; Yagci, Ramazan; Akyol, Ismail; Ersoy, Tugba; Sungur, Gulten; Yigit, Ayse; Duman, Sunay; Akyol, Omer (Turkish League Against Rheumatism, 2016)
      Objectives: This study aims to investigate the genetic association between single nucleotide mutation in mitochondrial manganese superoxide dismutase and a Behcet's disease (BD) population by using molecular techniques. ...

    • Genetic Predisposition To Fiber Carcinogenesis Causes A Mesothelioma Epidemic In Turkey 

      Dogan, A. Umran; Baris, Y. Izzettin; Dogan, Meral; Emri, Salih; Steele, Ian; Elmishad, Amira G.; Carbone, Michele (Amer Assoc Cancer Research, 2006)
      Malignant mesothelioma in the western world is often associated with asbestos exposure. It is a relatively rare cancer that causes similar to 2,500 deaths yearly in the United States and 1,000 deaths yearly in the United ...

    • Genetic Risk Factors For Psoriasis In Turkish Population: -1540 C/A, -1512 Ins18, And +405 C/G Polymorphisms Within The Vascular Endothelial Growth Factor Gene 

      Bozduman, Tuba; Ersoy Evans, Sibel; Karahan, Sevilay; Hayran, Yildiz; Akbiyik, Filiz; Lay, Incilay (2016)

    • Genetic Screening In Adolescents With Steroid-Resistant Nephrotic Syndrome 

      Lipska, Beata S.; Iatropoulos, Paraskevas; Maranta, Ramona; Caridi, Gianluca; Ozaltin, Fatih; Anarat, Ali; Balat, Ayse; Gellermann, Jutta; Trautmann, Agnes; Erdogan, Ozlem; Saeed, Bassam; Emre, Sevinc; Bogdanovic, Radovan; Azocar, Marta; Balasz-Chmielewska, Irena; Benetti, Elisa; Caliskan, Salim; Mir, Sevgi; Melk, Anette; Ertan, Pelin; Baskin, Esra; Jardim, Helena; Davitaia, Tinatin; Wasilewska, Anna; Drozdz, Dorota; Szczepanska, Maria; Jankauskiene, Augustina; Serna Higuita, Lina Maria; Ardissino, Gianluigi; Ozkaya, Ozan; Kuzma-Mroczkowska, Elzbieta; Soylemezoglu, Oguz; Ranchin, Bruno; Medynska, Anna; Tkaczyk, Marcin; Peco-Antic, Amira; Akil, Ipek; Jarmolinski, Tomasz; Firszt-Adamczyk, Agnieszka; Dusek, Jiri; Simonetti, Giacomo D.; Gok, Faysal; Gheissari, Alaleh; Emma, Francesco; Krmar, Rafael T.; Fischbach, Michel; Printza, Nikoleta; Simkova, Eva; Mele, Caterina; Ghiggeri, Gian Marco; Schaefer, Franz (Elsevier Science Inc, 2013)
      Genetic screening paradigms for congenital and infantile nephrotic syndrome are well established; however, screening in adolescents has received only minor attention. To help rectify this, we analyzed an unselected adolescent ...

    • Genetic Spectrum Of Hereditary Neuropathies With Onset In The First Year Of Life 

      Baets, Jonathan; Deconinck, Tine; De Vriendt, Els; Zimoń, Magdalena; Yperzeele, Laetitia; Van Hoorenbeeck, Kim; Peeters, Kristien; Spiegel, Ronen; Parman, Yesim; Ceulemans, Berten; Van Bogaert, Patrick; Pou-Serradell, Adolf; Bernert, Günther; Dinopoulos, Argirios; Auer-Grumbach, Michaela; Sallinen, Satu-Leena; Fabrizi, Gian Maria; Pauly, Fernand; Van den Bergh, Peter; Bilir, Birdal; Battaloglu, Esra; Madrid, Ricardo E.; Kabzińska, Dagmara; Kochanski, Andrzej; Topaloglu, Haluk; Miller, Geoffrey; Jordanova, Albena; Timmerman, Vincent; De Jonghe, Peter (2011)
      Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine–Sottas neuropathy starting in ...

    • Genetic Structures Of Sand Fly (Diptera: Psychodidae) Populations In A Leishmaniasis Endemic Region Of Turkey 

      Belen, Asli; Kucukyildirim, Sibel; Alten, Bulent (Soc Vector Ecology, 2011)
      The object of this study was to determine the genetic structures of three vector species, Phlebotomus tobbi, Phlebotomus papatasi, and Phlebotomus sergenti, in the Cukurova Region of Turkey, an endemic focus of cutaneous ...

    • Genetic Testing: Predictive Value Of Genotyping For Diagnosis And Management Of Disease 

      Özgüç, Meral (2011)
      This article describes predictive, preventive value of genetic tests and the implication of the use of testing for personalized treatment. This year marks the 10th anniversity of publishing of the sequence of the human ...

    • Genetic Variations In Attention Deficit Hyperactivity Disorder Subtypes And Treatment Resistant Cases 

      Unal, Dilek; Unal, Mehmet Fatih; Alikasifoglu, Mehmet; Cetinkaya, Arda (2016)
      Objective ObjectiveaaWe evaluated the distribution of alpha-2A adrenergic receptor (ADRA2A) and catechol-o-methyltransferase (COMT) single nucleotide polymorphisms (SNPs) among ADHD subtypes and other homogeneous patient ...

    • Genetic, Environmental, And Disease-Associated Correlates Of Vitamin D Status In Children With Ckd 

      Doyon, A; Schmiedchen, B; Sander, A; Bayazit, A; Duzova, A; Canpolat, N; Thurn, D; Azukaitis, K; Anarat, A; Bacchetta, J; Mir, S; Shroff, R; Yilmaz, E; Candan, C; Kemper, M; Fischbach, M; Cortina, G; Klaus, G; Wuttke, M; Köttgen, A; Melk, A; Querfeld, U; Schaefer, F. (2016)

    • Genetik Algoritma ve K-Ortalamalar Algoritmasının Tavsiye Sistemleri İçin Uygulanması 

      Poslu, Merve (Fen Bilimleri Enstitüsü, 2023)
      As there is an increasing emphasis on customer satisfaction, businesses are aiming to discover their customers' interests and preferences. Therefore, providing suitable products or services is crucial in today's competitive ...

    • Genetik Programlama Kullanılarak Mobil Zararlı Yazılımların Otomatik Olarak Üretilmesi 

      Aydoğan, Emre (Fen Bilimleri Enstitüsü, 2014)
      The number of mobile devices has increased dramatically in the past few years. These smart devices provide many useful functionalities accessible from anywhere at anytime, such as reading and writing e-mails, surfing on ...

    • Genisteinin Dna Hasarı Üzerindeki Etkilerinin Kolon Kanseri Hücrelerinde Tek Hücre Jel Elektroforez (Comet) Yöntemiyle Değerlendirilmesi 

      Çal Doğan, Tuğbagül; Çal, Tuğbagül (Sağlık Bilimleri Enstitüsü, 2021)
      Çal Doğan, T., Evaluation of The Effects of Genistein on DNA Damage by Single Cell Gel Electrophoresis (Comet) in Colon Cancer Cells, Hacettepe University Institute of Health Sciences Doctor of Philosophy Thesis on ...

    • Geniş Bantlı Kare Koaksiyel İletken Hat Güç Birleştirici 

      Yalçın Demir, Büşra (Fen Bilimleri Enstitüsü, 2021)
      Within the presented thesis 2, 4 and 8 way power combiner structures which have a square-coaxial transmission line structure and air dielectric, operating in the 8.5-10.5 GHz frequency band, to be used for the purpose of ...

    • Geniş Bantlı ve Düşük Frekanslı Mekanik Titreşimler için Esnek Piezoelektrik Enerji Hasadı Sistemi Tasarımı ve Üretimi 

      Çetin, Hasan Göksenin (Fen Bilimleri Enstitüsü, 2015-10-13)
      ABSTRACT DESIGN AND FABRICATION OF A FLEXIBLE PIEZOELECTRIC ENERGY HARVESTING SYSTEM FOR BROADBAND AND LOW-FREQUENCY MECHANICAL VIBRATIONS Hasan Göksenin ÇETİN Master of Science, Department of Mechanical Engineering ...