Yazar "Ogur, G." için listeleme
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Acute Complete Splenic Infarction in a Patient with Hirschsprung's Disease and Literature Review of Complete Splenic Infarction
Guler, N.; Yapici, O.; Erdem, D.; Ogur, G.; Ozatli, D.; Bakir, T. (Karger, 2007)Here we report a case of Hirschsprung's disease presenting with acute complete splenic infarction due to thrombus in the splenic vena. MTHFR C677T ( methylenetetrahydrofolate) gene homozygote mutation was a risk factor for ... -
Clinical and Molecular Studies in Two Families With Fraser Syndrome: A New Fras1 Gene Mutation, Prenatal Ultrasound Findings and Implications For Genetic Counselling
Ogur, G.; Zenker, M.; Tosun, M.; Ekici, F.; Schanze, D.; Ozyilmaz, B.; Malatyalioglu, E. (Medecine Et Hygiene, 2011)Clinical and molecular studies in two families with Fraser syndrome: a new FRAS1 gene mutation, prenatal ultrasound findings and implications for genetic counselling: Fraser syndrome is a rare autosomal recessive genetic ... -
A family of HHH syndrome with a novel missense mutation in SLC25A15 gene
Abur, U.; Ogur, G.; Dogan, C.; Aydin, H. I.; Altundag, E.; Ceylaner, S. (Nature Publishing Group, 2018)… -
A first case of OFDVI with c.3545delA and c.7400+1G > A mutations for CPLANE1 gene
Abur, U.; Sanri, A.; Dogan, C.; Altundag, E.; Akar, O. S.; Gumuskaptan, C.; Ogur, G. (Nature Publishing Group, 2019)… -
Gene discovery by Array- Comparative Genomic Hybridization
Ogur, G.; Abur, U.; Altundag, E.; Albayrak, H. Mutlu; Sanri, A.; Yalcin, H. Y.; Dogan, C. (Nature Publishing Group, 2018)… -
The impact of ERCC6 or ERCC8 genes in two turkish patients with clinical findings of cockayne syndrome
Sanri, A.; Albayrak, H. Mutlu; Yalcin, H.; Calmels, N.; Yilmaz, A.; Abur, U.; Ogur, G. (Nature Publishing Group, 2018)… -
Joubert Syndrome:New genes described! A new allelic phenotypes achieved!
Abur, U.; Ogur, G.; Altundag, E.; Yilmaz, A.; Akar, O. S.; Sanri, A.; Albayrak, H. Mutlu (Nature Publishing Group, 2019)… -
Neuropathic pain in a large turkish family with fabry disease
Turker, H.; Akpinar, K.; Cengiz, K.; Bayrak, A. O.; Ogur, G. (Medimond S R L, 2013)Fabry Disease is an X-linked lysosomal storage disease caused by the mutations in the GLA gene coding for the lysosomal enzyme alpha-galactosidase in chromosome Xq22.1. Neuropathic pain is common. In this study, our goal ... -
TWO CASES OF 9p DELETION SYNDROME AND A CASE OF PARTIAL TRISOMY 8 AND PARTIAL MONOSOMY 9p
Okten, G.; Sezer, O.; Gunes, S.; Kucukoduk, S.; Ogur, G. (Medecine Et Hygiene, 2009)Two cases of 9p deletion syndrome and a case of partial trisomy, 8 and partial monosomy 9p: We report 3 girls with mental retardation (MR), distinctive malformations of the skull and facial region, including trigonocephaly, ...
