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Toplam 27653 kayıt

Abortus Riskinde Fetal VEGF Genotipinin Önemi

Yalçıntepe, S., Sılan, F., Hacıvelioğlu, S., Uludag, A., Coşar, E., ÖZDEMİR, Ö. (2013) "Abortus Riskinde Fetal VEGF Genotipinin Önemi", Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu , Türkiye, (Aralık 2013 Yalçıntepe, S., Sılan, F., Hacıvelioğlu, S., Uludag, A., Coşar, E., ÖZDEMİR, Ö. (2013) "Abortus Riskinde Fetal VEGF Genotipinin Önemi", Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu , Türkiye, (Aralık 2013
2013 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu

Maternal Fetal eNOS Genotipleri ile Spontan Abortus İlişkisi

Yalçıntepe, A., ÖZDEMİR, Ö., Hacıvelioğlu, Ö., Akurut, Ç., Kumcular, T. () "Maternal Fetal eNOS Genotipleri ile Spontan Abortus İlişkisi", Erişkin Yaşta Görülen Genetik Hastalılar Sempozyumu , Türkiye  Yalçıntepe, A., ÖZDEMİR, Ö., Hacıvelioğlu, Ö., Akurut, Ç., Kumcular, T. () "Maternal Fetal eNOS Genotipleri ile Spontan Abortus İlişkisi", Erişkin Yaşta Görülen Genetik Hastalılar Sempozyumu , Türkiye 
0 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
Erişkin Yaşta Görülen Genetik Hastalılar Sempozyumu

Parental Idendification of Aborted Materials for Chimerism and Other Molecular Etiological Parameters by Microsatellite STR Profiling

Sılan, F., Uludağ, A., Akurut, Ç., Kankaya, D., Gencer, M., Urfalı, M., Yalçıntepe, S., ÖZDEMİR, Ö. (2014) "Parental Idendification of Aborted Materials for Chimerism and Other Molecular Etiological Parameters by Microsatellite STR Profiling", European Society of Human Genetics 2014 , İtalya, (Haziran 2014 Sılan, F., Uludağ, A., Akurut, Ç., Kankaya, D., Gencer, M., Urfalı, M., Yalçıntepe, S., ÖZDEMİR, Ö. (2014) "Parental Idendification of Aborted Materials for Chimerism and Other Molecular Etiological Parameters by Microsatellite STR Profiling", European Society of Human Genetics 2014 , İtalya, (Haziran 2014
2014 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Society of Human Genetics 2014

A Homozygous Nonsense Mutation In MTHFR Gene Causes A Severe Phenotype: Hypotonia And Hydrocephalus. Poster presentation

Albuz, B., Malçok, Ü.A., Sılan, F., ÖZDEMİR, Ö. (2020) "A Homozygous Nonsense Mutation In MTHFR Gene Causes A Severe Phenotype: Hypotonia And Hydrocephalus. Poster presentation", European Biotechnology Congress 2020 , Prag, Çek Cumhuriyeti, (Eylül 2020 Albuz, B., Malçok, Ü.A., Sılan, F., ÖZDEMİR, Ö. (2020) "A Homozygous Nonsense Mutation In MTHFR Gene Causes A Severe Phenotype: Hypotonia And Hydrocephalus. Poster presentation", European Biotechnology Congress 2020 , Prag, Çek Cumhuriyeti, (Eylül 2020
2020 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2020

THE POSSIBLE ASSOCIATION OF SOME THROMBOPHILIC GENE POLYMORPHISMS WITH DEEP VEIN THROMBOSIS AND PULMONARY THROMBOEMBOLISM

Yıldırım, M.E., Kurtulgan, H.K., Kılıçgün, H., ÖZDEMİR, Ö., Beton, O., Tekin, Y.K. (2016) "THE POSSIBLE ASSOCIATION OF SOME THROMBOPHILIC GENE POLYMORPHISMS WITH DEEP VEIN THROMBOSIS AND PULMONARY THROMBOEMBOLISM", 12. Ulusal Tıbbi Genetik Kongresi , Türkiye, (Ekim 2016 Yıldırım, M.E., Kurtulgan, H.K., Kılıçgün, H., ÖZDEMİR, Ö., Beton, O., Tekin, Y.K. (2016) "THE POSSIBLE ASSOCIATION OF SOME THROMBOPHILIC GENE POLYMORPHISMS WITH DEEP VEIN THROMBOSIS AND PULMONARY THROMBOEMBOLISM", 12. Ulusal Tıbbi Genetik Kongresi , Türkiye, (Ekim 2016
2016 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
12. Ulusal Tıbbi Genetik Kongresi

Mosaic Trisomy 9 Presenting With Congenital Diaphragmatic Hernia And Facial Dysmorphism

Öztürk, M., Demir, B., Arayici, S., Demir, S., ÖZDEMİR, Ö., Sılan, F. (2019) "Mosaic Trisomy 9 Presenting With Congenital Diaphragmatic Hernia And Facial Dysmorphism", 13th Balcan Human Genetic Congress. 17-20 April 2019, Edirne/Turkey. , (Nisan 2019 Öztürk, M., Demir, B., Arayici, S., Demir, S., ÖZDEMİR, Ö., Sılan, F. (2019) "Mosaic Trisomy 9 Presenting With Congenital Diaphragmatic Hernia And Facial Dysmorphism", 13th Balcan Human Genetic Congress. 17-20 April 2019, Edirne/Turkey. , (Nisan 2019
2019 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
13th Balcan Human Genetic Congress. 17-20 April 2019, Edirne/Turkey.

Çanakkale popülasyonunda HBB(Hemoglobin Subunit Beta) geni mutasyon profilleri

Sılan, F., Karakaya, T., Bir, F.D., ÖZDEMİR, Ö. (2018) "Çanakkale popülasyonunda HBB(Hemoglobin Subunit Beta) geni mutasyon profilleri", 3.Hematolojik Genetik Sempozyumu , (pp. 65), İzmir, Türkiye, (Şubat 2018 Sılan, F., Karakaya, T., Bir, F.D., ÖZDEMİR, Ö. (2018) "Çanakkale popülasyonunda HBB(Hemoglobin Subunit Beta) geni mutasyon profilleri", 3.Hematolojik Genetik Sempozyumu , (pp. 65), İzmir, Türkiye, (Şubat 2018
2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
3.Hematolojik Genetik Sempozyumu

Loss of heterozygosity (LOH) of the TBX18 and MRAP2 genes in a case with unilateral renal agenesis and central obesity

Sılan, F., Yayar, Ö.Y., Bir, F.D., Karakaya, T., Paksoy, B., ÖZDEMİR, Ö. (2018) "Loss of heterozygosity (LOH) of the TBX18 and MRAP2 genes in a case with unilateral renal agenesis and central obesity", Erciyes Tıp Genetik Günleri 2018 , (pp. 74), Kayseri, Türkiye, (Haziran 2018 Sılan, F., Yayar, Ö.Y., Bir, F.D., Karakaya, T., Paksoy, B., ÖZDEMİR, Ö. (2018) "Loss of heterozygosity (LOH) of the TBX18 and MRAP2 genes in a case with unilateral renal agenesis and central obesity", Erciyes Tıp Genetik Günleri 2018 , (pp. 74), Kayseri, Türkiye, (Haziran 2018
2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
Erciyes Tıp Genetik Günleri 2018

A rare heterochromatin polymorphism of chromosome 6 associated with recurrent miscarriage: A case report

Albuz, B., Sılan, F., Öztürk, M., Karakaya, T., ÖZDEMİR, Ö. (2019) "A rare heterochromatin polymorphism of chromosome 6 associated with recurrent miscarriage: A case report", 13.Balkan Congress of Human Genetics , Edirne, Türkiye, (Nisan 2019 Albuz, B., Sılan, F., Öztürk, M., Karakaya, T., ÖZDEMİR, Ö. (2019) "A rare heterochromatin polymorphism of chromosome 6 associated with recurrent miscarriage: A case report", 13.Balkan Congress of Human Genetics , Edirne, Türkiye, (Nisan 2019
2019 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
13.Balkan Congress of Human Genetics

BCL11B gene may be a candidate gene for mastocytosis in a patient with partial trisomy of distal 14q

Albuz, B., Sılan, F., Öztürk, M., Yıldız, O., ÖZDEMİR, Ö. (2019) "BCL11B gene may be a candidate gene for mastocytosis in a patient with partial trisomy of distal 14q", 13th Balkan Congress of Human Genetics , (pp. 156-1156), Edirne, Türkiye, (Haziran 2019 Albuz, B., Sılan, F., Öztürk, M., Yıldız, O., ÖZDEMİR, Ö. (2019) "BCL11B gene may be a candidate gene for mastocytosis in a patient with partial trisomy of distal 14q", 13th Balkan Congress of Human Genetics , (pp. 156-1156), Edirne, Türkiye, (Haziran 2019
2019 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
13th Balkan Congress of Human Genetics

Akciğer kanseri olgularında K ras kodon 12 13 mutasyon sıklığı ve tümör dokularına özgü TS promotör bölge metilasyon profilleri

Arslan, S., Köksal, B., ÖZDEMİR, Ö., Doğan, Ö.T., Yıldız, F., Akkurt, İ. (2009) "Akciğer kanseri olgularında K ras kodon 12 13 mutasyon sıklığı ve tümör dokularına özgü TS promotör bölge metilasyon profilleri", 11. Ulusal Tıbbi Biyoloji ve Genetik Kongresi , Muğla, Türkiye, (Ekim 2009 Arslan, S., Köksal, B., ÖZDEMİR, Ö., Doğan, Ö.T., Yıldız, F., Akkurt, İ. (2009) "Akciğer kanseri olgularında K ras kodon 12 13 mutasyon sıklığı ve tümör dokularına özgü TS promotör bölge metilasyon profilleri", 11. Ulusal Tıbbi Biyoloji ve Genetik Kongresi , Muğla, Türkiye, (Ekim 2009
2009 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
11. Ulusal Tıbbi Biyoloji ve Genetik Kongresi

Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale

Sılan, F., Djurovic, J., Bir, F.D., Sılan, C., ÖZDEMİR, Ö. (2018) "Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale", European Biotechnology Congress 2018 , (pp. 65), Yunanistan, (Haziran 2018 Sılan, F., Djurovic, J., Bir, F.D., Sılan, C., ÖZDEMİR, Ö. (2018) "Rare disease or rare diagnosed diseases: Blau syndrome with a rare mutation in exon 9 of NOD2 gene from Canakkale", European Biotechnology Congress 2018 , (pp. 65), Yunanistan, (Haziran 2018
2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2018

Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients

Sılan, C., Urfalı, M., ÖZDEMİR, Ö., Sılan, F. (1018) "Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients", EUROPEAN BIOTECHNOLOGY CONGRESS 2018-Athens-Greece , (pp. 65), Atina, Yunanistan, (Mayıs 1018 Sılan, C., Urfalı, M., ÖZDEMİR, Ö., Sılan, F. (1018) "Importance of CYP450 genes rs16947, rs2740574 and rs776746 polymorphisms in colchicine resistance or side effects in FMF patients", EUROPEAN BIOTECHNOLOGY CONGRESS 2018-Athens-Greece , (pp. 65), Atina, Yunanistan, (Mayıs 1018
1018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
EUROPEAN BIOTECHNOLOGY CONGRESS 2018-Athens-Greece

Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis

Sılan, F., Karakaya, T., Bir, F.D., Paksoy, B., ÖZDEMİR, Ö. (2018) "Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis", European Biotechnology Congress 2018 , (pp. 65-66), Atina, Yunanistan, (Ağustos 2018 Sılan, F., Karakaya, T., Bir, F.D., Paksoy, B., ÖZDEMİR, Ö. (2018) "Frameshift mutation in N-acetyl-glutamate synthase (NAGS) gene in a consanguineous family: three deceased cases before diagnosis", European Biotechnology Congress 2018 , (pp. 65-66), Atina, Yunanistan, (Ağustos 2018
2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2018

A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome

Bir, F.D., ÖZDEMİR, Ö., Karakaya, T., Yıldız, O., Sılan, F. (2018) "A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome", European Biotechnology Congress 2018 , (pp. 64), Atina, Yunanistan, (Ağustos 2018 Bir, F.D., ÖZDEMİR, Ö., Karakaya, T., Yıldız, O., Sılan, F. (2018) "A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome", European Biotechnology Congress 2018 , (pp. 64), Atina, Yunanistan, (Ağustos 2018
2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2018

Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations

ÖZDEMİR, Ö., Karakaya, T., Bir, F.D., Yıldız, O., Sılan, F. (2018) "Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations", European Biotechnology Congress 2018 , (pp. 66), Atina, Yunanistan, (Ağustos 2018 ÖZDEMİR, Ö., Karakaya, T., Bir, F.D., Yıldız, O., Sılan, F. (2018) "Distal trisomy 3q and distal monosomy 11q in a mother and child with neurodevelopmental delay, short stature, facial dysmorphism and digital malformations", European Biotechnology Congress 2018 , (pp. 66), Atina, Yunanistan, (Ağustos 2018
2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2018

The RFLP profiles at BRAF V600E mutations in thyroid FNAB nodules

Özdemir, S., Aşık, M., Sılan, F., ÖZDEMİR, Ö., Tan, Y.Z., Arı, E., Eroğlu, M., Kubilay, U. (2015) "The RFLP profiles at BRAF V600E mutations in thyroid FNAB nodules", European Biotechnology Congress , (pp. 85), Bükreş, (Ağustos 2015 Özdemir, S., Aşık, M., Sılan, F., ÖZDEMİR, Ö., Tan, Y.Z., Arı, E., Eroğlu, M., Kubilay, U. (2015) "The RFLP profiles at BRAF V600E mutations in thyroid FNAB nodules", European Biotechnology Congress , (pp. 85), Bükreş, (Ağustos 2015
2015 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress

A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype–phenotype correlation in a case report.

Sılan, F., Karakaya, T., Yıldız, O., Paksoy, B., Urfalı, M., ÖZDEMİR, Ö. (2017) "A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype–phenotype correlation in a case report.", European Biotechnology Congress , (pp. 78), (Eylül 2017 Sılan, F., Karakaya, T., Yıldız, O., Paksoy, B., Urfalı, M., ÖZDEMİR, Ö. (2017) "A mental and motor retarded case with derivative chromosome 8p rearrangements: Genotype–phenotype correlation in a case report.", European Biotechnology Congress , (pp. 78), (Eylül 2017
2017 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress

A Case report of an infertile man with Isodicentric YChromosome mosaicism with duplicated SRY SHOX and deleted AZF regions

Sılan, F., Urfalı, M., ÖZDEMİR, Ö. (2016) "A Case report of an infertile man with Isodicentric YChromosome mosaicism with duplicated SRY SHOX and deleted AZF regions", European Biotchnology Congress , Riga, Litvanya, (Nisan 2016 Sılan, F., Urfalı, M., ÖZDEMİR, Ö. (2016) "A Case report of an infertile man with Isodicentric YChromosome mosaicism with duplicated SRY SHOX and deleted AZF regions", European Biotchnology Congress , Riga, Litvanya, (Nisan 2016
2016 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotchnology Congress