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Journal of Pediatric Hematology/Oncology|April 12, 2021
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic AnemiaEzgi Topyildiz, Neslihan Edeer Karaca, Ilke Bas, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|April 12, 2023
Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDGMerve Yoldas Celik, Havva Yazici, Fehime Erdem, et al.European Journal of Medical Genetics|November 1, 2015
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genesAsli Ece Solmaz, Huseyin Onay, Tahir Atik, et al.Scandinavian Journal of Immunology|March 18, 2022
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variantsAyca Aykut, Asude Durmaz, Neslihan Karaca, et al.Journal of Bone and Mineral Metabolism|January 19, 2025
Insights into skeletal involvement in adult Gaucher disease: a single-center experienceMerve Yoldaş Çelik, Ebru Canda, Havva Yazıcı, et al.Journal of Genetic Counseling|January 12, 2011
Reasons for adult referrals for genetic counseling at a genetics center in Izmir, Turkey: analysis of 8965 cases over an eleven-year periodOzgur Cogulu, Ferda Ozkinay, Haluk Akin, et al.Human Genetics|July 16, 2013
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndromeEsther Pohl, Ayca Aykut, Filippo Beleggia, et al.Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|November 7, 2016
Evaluation of the miRNA profiling and effectiveness of the propolis on B-cell acute lymphoblastic leukemia cell lineUgur Cem Yilmaz, Bakiye Goker Bagca, Emin Karaca, et al.European Journal of Ophthalmology|May 8, 2025
Next generation sequencing in children with isolated congenital cataractGunay Amanova, Esra Er, Esra Isik, et al.Anti-Cancer Agents in Medicinal Chemistry|May 5, 2021
Propolis Extract Regulates microRNA Expression in Glioblastoma and Brain Cancer Stem CellsUgur C Yilmaz, Bakiye Goker Bagca, Emin Karaca, et al.Pageof 6