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Browsing Ph.D. Theses by Author

Browsing Ph.D. Theses by Author "Çağlayan, S. Hande."

Now showing items 1-6 of 6

Absence epilepsy in Turkish patients: a novel gene at susceptibility locus 2q36 and the role of GABRG2

Çapan, Özlem Yalçın. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2009., 2009.)

Idiopathic absence epilepsies (IAE) are complex disorders mainly caused by genetic factors. Two major whole-genome linkage studies performed on many IAE samples pointed to chromosome 2q36 as a susceptibility locus for ...
Identification of novel genes involved in the etiology of benign neonatal / infantile epilepsy syndromes and genetic epilepsy with febrile seizures plus (GEFS+)

Usluer, Sunay. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2015., 2015.)

Epilepsy is among the most prevalent episodic neurological disorders. Genetic factors play a major role in the etiology of epilepsy. This thesis included analysis of families with distinct epilepsy phenotypes in order to ...
Molecular analyses of germ line methylation patterns and of the common intron 22 inversion mutation in the factor VIII gene

El-Maarri, Osman A. (Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1998., 1998.)

The factor VIII gene includes two major mutation hotspots: the intron 22 inversion and transitions at CpG dinucleotides, both of which have been examined in the context of this thesis. A non-radioactive southern blot ...
Molecular analysis of the factor IX gene in the Turkish population

Onay, Ü. Venüs. (Thesis (Ph.D.) - Bogazici University. Institute for Graduate Studies in Science and Engineering, 1999., 1999.)

Hemophilia B, the third common hereditary coagulopathy, is very heterogeneous at both phenotypic and genotypic levels. This X-linked recessive disease is caused by the production of either reduced amounts or functionally ...
Mutation profile of hemophilia a patients with inhibitors and association of interleukin and cytokine gene polymorphisms with inhibitor development

Fidancı, İnanç Değer. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2010., 2010.)

Hemophilia A (HA) is an X linked recessive bleeding disorder characterized by qualitative and quantitative deficiency in the factor VIII (FVIII) protein, mainly caused by Factor 8 (F8) gene mutations. A severe complication ...
The molecular landscape of ALS in Turkey: A multifaceted approach to the complex genetics of ALS

İskender, Ceren. (Thesis (Ph.D.)-Bogazici University. Institute for Graduate Studies in Science and Engineering, 2018., 2018.)

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease (NDD), characterized by degeneration of both upper and lower motor neurons leading to muscle wasting. With an incidence of two and a prevalence ...

Browsing Ph.D. Theses by Author "Çağlayan, S. Hande."

Browsing Ph.D. Theses by Author "Çağlayan, S. Hande."

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