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Toplam 27840 kayıt

A Homozygous Nonsense Mutation In MTHFR Gene Causes A Severe Phenotype: Hypotonia And Hydrocephalus. Poster presentation
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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
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2016 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
12. Ulusal Tıbbi Genetik Kongresi

Mosaic Trisomy 9 Presenting With Congenital Diaphragmatic Hernia And Facial Dysmorphism
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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
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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
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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
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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
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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
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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
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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
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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
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2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2018

A case with 10q22.3q23.2 microdeletion syndrome and mosaic Klinefelter syndrome
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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
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2018 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress 2018

The RFLP profiles at BRAF V600E mutations in thyroid FNAB nodules
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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.
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2017 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotechnology Congress

A unique keratosis pattern in a case of epidermolytic hyperkeratosis: Report of a case in 46,XX,9qh karyotype
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2017 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
INDERCOS Congress

A Case report of an infertile man with Isodicentric YChromosome mosaicism with duplicated SRY SHOX and deleted AZF regions
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2016 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
European Biotchnology Congress

Tumoral tissue spesific promoter hypermethylation of tumor suppressor genes SFRP2 p16 DAPK1 HIC1 and MGMT in a case with non small cell lung carcinoma a case report
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2009 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
7th European Cytogenetics Conference

Recurrent pregnancy loss and it s relation to combined trombophilic gene mytations
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2010 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation

Down sendromu oluşumunda ebeveynin homosistein folat metabolizmasındaki MTHFR gen polimorfizminin rolü
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2007 Tebliğ/Bildiri SCI/SSCI/AHCI ESCI Scopus
10. Ulusal Tıbbi Biyoloji ve Genetik Kongresi