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European Journal of Medical Genetics|September 24, 2018
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotypingEsra Isik, Ayca Aykut, Tahir Atik, et al.Clinical Dysmorphology|March 14, 2007
Two cases of macrocephaly and immune deficiencyOzgur Cogulu, Ayca Aykut, Necil Kutukculer, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 22, 2013
Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant alleleEmin Karaca, Sema Kalkan, Huseyin Onay, et al.Clinical Dysmorphology|January 25, 2021
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencingOzgur Cogulu, Neda Mojarrab, Ozguc S Simsir, et al.Archives of Iranian Medicine|June 26, 2012
Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosisMert Kazandi, Volkan Turan, Gulsah Selvi Demirtas, et al.Case Reports in Immunology|November 9, 2018
An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell TransplantationNecil Kutukculer, Neslihan Edeer Karaca, Guzide Aksu, et al.International Journal of Rheumatic Diseases|March 1, 2014
Association of mannose binding lectin codon 54 polymorphism with predisposition to Henoch-Schönlein purpura in childhoodBurak Durmaz, Ayca Aykut, Gultac Hursitoglu, et al.Plos One|November 13, 2015
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing LossTahir Atik, Huseyin Onay, Ayca Aykut, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|July 16, 2014
Two novel mutations in acid α-glucosidase gene in two patients with Pompe diseaseAyca Aykut, Huseyin Onay, Melis Kose, et al.Case Reports in Immunology|June 20, 2022
A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two YearsEzgi Topyildiz, Neslihan Edeer Karaca, Ayse Aygun, et al.Pageof 6