Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Diğer Dergilerde Yayınlanan Makaleler

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Gross deletion in KIF11: A de novo occurrence

European Human Genetics Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1 Creative Commons License

NADIR RASTLANILAN BARDET BIEDL SENDROMU TANILI OLGULARIN GENETIK, ENDOKRINOLOJIK VE METABOLIK ÖZELLIKLERI

XXVIII. ULUSAL PEDİATRİK ENDOKRİNOLOJİ VE DİYABET KONGRESİ, Girne, Kıbrıs (Kktc), 2 - 05 Mayıs 2024, ss.200-201

A CASE WITH SPINOCEREBELLAR ATAXIA TYPE 10

14th Balkan Congress of Human Genetics & 9th Rare Disease SEE Meeting 2023, Skopje, Makedonya, 5 - 07 Ekim 2023, cilt.26, ss.87

MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları

14.Ulusal Tıbbi Genetik Kongresi "Uluslararası Katılımlı", çevrimiçi, Türkiye, 20 - 22 Kasım 2020, cilt.31, sa.4, ss.53 Creative Commons License

Alport sendromlu 15 olgunun klinik ve moleküler bulguları

14. TIBBİ GENETİK KONGRESİ, İstanbul, Türkiye, 20 - 22 Aralık 2020, cilt.31, sa.4, ss.49 Creative Commons License

Analysis ofRUNX2mutations in four Turkish patients with Cleidocranial Dysplasia

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, ss.350-351 identifier

Clinical features and genetic analyses of type III hereditary angioedema patients

European-Academy-of-Allergy-and-Clinical-Immunology Congress, Copenhagen, Danimarka, 7 - 11 Haziran 2014, cilt.69, ss.483-484 identifier

Molecular Diagnostic Algorithm of Syndromic Craniosynostosis

European Human Genetics. Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.215

HBB gene mutation spectrum of beta-thalasemia patients from Turkey.

European Human Genetics Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.140

HBB gene mutation spectrum of beta-thalasemia patients from Turkey

European Human Genetics Conference 2014, Milan, İtalya, 31 Mayıs - 03 Haziran 2014, cilt.22, sa.1, ss.140

Tip III Herediter Anjiödem Hastalarının Klinik ve Genetik Özelliklerinin Analizi

XX. Ulusal Allerji ve Klinik immunoloji Kongresi, Antalya, Türkiye, 2 - 06 Kasım 2013, ss.51

The first case diagnosed as both type III hereditary angioedema and familial Mediterranean fever

World Allergy and Asthma Congress of the European-Academy-of-Allergy-and-Clinical-Immunology and World-Allergy-Organization, Milan, İtalya, 22 - 26 Haziran 2013, cilt.68, ss.250 identifier

Increased HLA DRB1*11 with cGvHD and relation to engraftment in bone marrow transplantation

22nd European Immunogenetics and Histocompatibility Conference, Toulouse, Fransa, 2 - 05 Nisan 2008, ss.320 identifier

Describing the actual status of a Turkish bone marrow registry

22nd European Immunogenetics and Histocompatibility Conference, Toulouse, Fransa, 2 - 05 Nisan 2008, ss.377-378 identifier

HLAmatch - a programming library for allele and haplotype frequency based HLA matching

22nd European Immunogenetics and Histocompatibility Conference, Toulouse, Fransa, 2 - 05 Nisan 2008, ss.320-321 identifier

KIR gone diversity in Turkish population

20th European Immunogenetics and Histocompatibility Conference, Oslo, Norveç, 8 - 11 Haziran 2006, ss.571 identifier

Kitap & Kitap Bölümleri

Çoklu Bağlanmaya Bağımlı Prob Amplifikasyonu (Multıplex Lıgatıondependent Probe Amplıfıcatıon – MLPA)

Pediatri Pratiğinde Genetik Testlerin Seçimi ve Yorumlanması, Prof. Dr. Beyhan Tüysüz, Editör, Nobel Yayınevi, Ankara, ss.102-111, 2023 Creative Commons License

Metrikler

Yayın

68

Atıf (WoS)

68

H-İndeks (WoS)

4

Atıf (Scopus)

77

H-İndeks (Scopus)

4

Atıf (Scholar)

91

H-İndeks (Scholar)

3

Proje

5

Açık Erişim

11
BM Sürdürülebilir Kalkınma Amaçları