Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Plant-based milk alternative preference for children with cow milk protein allergy: Affecting factors and effect on nutritional status

European-Academy-of-Allergology-and-Clinical-Immunology Digital Congress (EAACI), London, Kanada, 6 - 08 Haziran 2020, cilt.75, ss.539-540 identifier

Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family

10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017

MULTICENTER RESULTS OF SCHWACHMAN-DIAMOND SYNDROME PATIENTS

22nd Congress of the European-Hematology-Association, Madrid, İspanya, 22 - 25 Haziran 2017, cilt.102, ss.704-705 identifier

A Homozygous Germ Line Nonsense Mutation in BRCA1 Leading Fanconi Anemia and Neuroblastoma

58th Annual Meeting and Exposition of the American-Society-of-Hematology (ASH), California, Amerika Birleşik Devletleri, 3 - 06 Aralık 2016, cilt.128 identifier

A Hypomorphic Coronin-1A Mutation that Abolishes Oligomerization and Cytoskeletal Association Is Associated with Impaired CD4+T Cell Survival

16th Biennial Meeting of the European-Society-for-Immunodeficiencies (ESID), Prague, Çek Cumhuriyeti, 29 Ekim - 01 Kasım 2014, cilt.34 identifier

Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Annual Meeting of the American-Academy-of-Allergy-Asthma-and-Immunology (AAAAI), California, Amerika Birleşik Devletleri, 28 Şubat - 04 Mart 2014, cilt.133 identifier

Congenital hypertelorism & osteopenia, a novel autosomal recessive disease of development

16th Annual Conference of the International-Society-of-Development-Biologists, Edinburgh, Saint Helena, 6 - 10 Eylül 2009, cilt.126 identifier

Linkage analysis of a four generation herediter spherocytosis family with spectrin deficiency

7th European Cytogenetics Conference, Stockholm, İsveç, 4 - 07 Temmuz 2009, cilt.17, ss.79 identifier

The association of BDNF gene val66met polymorphism with the serum BDNF levels in drug-free depressed patients

21st Congress of the European-College-of-Neuropsychopharmacology, Barcelona, İspanya, 30 Ağustos - 03 Eylül 2008, cilt.18 identifier

Hunting the susceptibility gene for psychosis: A study of a family overloaded with different forms of psychotic disorders

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Çek Cumhuriyeti, 20 - 24 Eylül 2003, cilt.13 identifier

A family overloaded with psychosis and rickets-alopecia syndrome challenges vitamin-D hypothesis for schizophrenia

16th Congress of the European-College-of-Neuropsychopharmacology, PRAGUE, Çek Cumhuriyeti, 20 - 24 Eylül 2003, cilt.13 identifier

Molecular characterization of pyrimidine 5 prime nucleotidase (P5N-1) deficiency: Identification of 3 novel mutations.

44th Annual Meeting of the American-Society-of-Hematology, PHILADELPHIA, PENNSYLVANIA, 6 - 10 Aralık 2002, cilt.100 identifier

Phenotype description of Van der Woude Syndrome (VWS) unlinked to chromosome 1 containing IRF6

52nd Annual Meeting of the American-Society-of-Human-Genetics, BALTIMORE, MARYLAND, 15 - 19 Ekim 2002, cilt.71, ss.285 identifier

Juvenile Hyalin Fibromatosis in three sibs from a consanguineous family: Clinical, histopathological and imminohistochemical findings

European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics, Strasbourg, Fransa, 25 - 28 Mayıs 2002, cilt.10, ss.121-122 identifier

Kitap & Kitap Bölümleri

Nötropeninin Nadir Bir Nedeni: Bileşik Heterozigot Mutasyonu Olan Shwachman-Diamond Sendromu

Olgularla Kemik İliği Yetmezlikleri, Şule Ünal Cangül, Didem Atay, Turan Bayhan, Yusuf Ziya Aral, Editör, Galenos Yayın Evi, ss.171-173, 2023

YÜZ YARIKLARININ GENETİĞİ

DUDAK ve DAMAK YARIKLARI HACETTEPE EKİP YAKLAŞIMI, Fatma FİGEN ÖZGÜR, Arda KÜÇÜKGÜVEN, Editör, HEKİM TIP KİTABEVİ, Ankara, ss.518-523, 2020

The ALX Homeobox Gene Family and Frontonasal Dysplasias

Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.), Robert P. Erickson,Anthony J. Wynshaw-Boris, Editör, Oxford University Press, London , London, ss.747-752, 2016

Metrikler

Yayın

116

Atıf (WoS)

4336

H-İndeks (WoS)

31

Atıf (Scopus)

4854

H-İndeks (Scopus)

34

Proje

13

Açık Erişim

36
BM Sürdürülebilir Kalkınma Amaçları