Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 293 | 2015 |
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes B Yuan, D Pehlivan, E Karaca, N Patel, WL Charng, T Gambin, ... The Journal of clinical investigation 125 (2), 636-651, 2015 | 181 | 2015 |
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome E Karaca, OO Yuregir, ST Bozdogan, H Aslan, D Pehlivan, SN Jhangiani, ... American journal of medical genetics Part A 167 (11), 2795-2799, 2015 | 58 | 2015 |
Investigation of key miRNAs and target genes in bladder cancer using miRNA profiling and bioinformatic tools KM Canturk, M Ozdemir, C Can, S Öner, R Emre, H Aslan, O Cilingir, ... Molecular biology reports 41, 8127-8135, 2014 | 57 | 2014 |
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 45 | 2021 |
Alpha-thalassemia mutations in Adana Province, southern Turkey: genotype-phenotype correlation ST Bozdogan, OO Yuregir, N Buyukkurt, H Aslan, ZC Ozdemir, T Gambin Indian Journal of Hematology and Blood Transfusion 31, 223-228, 2015 | 25 | 2015 |
Plasminogen activator inhibitor-1 5G/5G genotype is associated with early spontaneous recanalization of the infarct-related artery in patients presenting with acute ST … CE Cagliyan, OO Yuregir, M Balli, K Tekin, RE Akilli, ST Bozdogan, ... Coronary artery disease 24 (3), 196-200, 2013 | 17 | 2013 |
Baylor-Hopkins Center for Mendelian Genomics. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome E Karaca, OO Yuregir, ST Bozdogan, H Aslan, D Pehlivan, SN Jhangiani, ... Am J Med Genet A. A 167 (11), 2795-9, 2015 | 10 | 2015 |
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families M Traverso, OO Yuregir, A Mimouni-Bloch, A Rossi, H Aslan, E Gazzerro, ... European Journal of Paediatric Neurology 17 (1), 108-111, 2013 | 10 | 2013 |
Developmental genomics of limb malformations: allelic series in association with gene dosage effects contribute to the clinical variability R Duan, H Hijazi, EY Gulec, HK Eker, SR Costa, Y Sahin, Z Ocak, S Isikay, ... Human Genetics and Genomics Advances 3 (4), 2022 | 8 | 2022 |
Shprintzen-Goldberg Syndrome: Case Report/Shprintzen-Goldberg Sendromu: Olgu Sunumu S Yalcintepe, OO Yuregir, ST Bozdogan, H Aslan Meandros Medical and Dental Journal 19 (2), 175-178, 2018 | 7 | 2018 |
Detection of deletions and/or amplifications of genes related with lung cancer by multiplex ligation-dependent probe amplification (MLPA) technique E Tepeli, MH Muslumanoglu, A Uludag, N Buyukpinarbasili, M Ozdemir, ... Cancer Biology & Therapy 8 (22), 2160-2164, 2009 | 7 | 2009 |
Acrodermatitis enteropathica: A novel mutation of the SLC39A4 gene in a Turkish boy H Kaya Erdogan, I Bulur, ZN Saracoglu, H Aslan, SD Aydogdu, B Yildiz The Journal of Dermatology 43 (8), 966-968, 2016 | 6 | 2016 |
Is the extraction by Whatman FTA filter matrix technology and sequencing of large ribosomal subunit D1–D2 region sufficient for identification of clinical fungi? N Kiraz, Y Oz, H Aslan, Z Erturan, B Ener, S Arikan Akdagli, ... Mycoses 58 (10), 588-597, 2015 | 6 | 2015 |
Is the extraction by Whatman FTA filter matrix technology and sequencing of large ribosomal subunit D1–D2 region sufficient for identification of clinical fungi? N Kiraz, Y Oz, H Aslan, Z Erturan, B Ener, S Arikan Akdagli, ... Mycoses 58 (10), 588-597, 2015 | 6 | 2015 |
Bilateral Coats’ disease combined with retinopathy of prematurity H Gursoy, N Erol, MD Bilgec, H Basmak, O Kutlay, H Aslan Case Reports in Ophthalmological Medicine 2015, 2015 | 5 | 2015 |
Detection of kinase amplifications in gastric adenocarcinomas M ÖZDEMİR, M Öznur, E Ciftci, BD Aras, H Aslan, H Saygili, KS Öner, ... Turkish Journal of Medical Sciences 44 (3), 461-470, 2014 | 5 | 2014 |
Relationships between body mass index and skinfold thickness of exercised and sedentary young adults H Aslan, MA Ziyagil African Educational Research Journal 8 (3), 422-430, 2020 | 4 | 2020 |
The usefulness of DNA sequencing after extraction by Whatman FTA filter matrix technology and phenotypic tests for differentiation of Candida albicans and Candida dubliniensis N Kiraz, Y Oz, H Aslan, H Muslumanoglu Mycopathologia 177, 81-86, 2014 | 4 | 2014 |
Nonsense β-Thalassemia Mutation at Codon 37 (TGG>TGA), Detected for the First Time in Three Turkish Cases ST Bozdogan, C Unsal, H Erkman, A Genc, OO Yuregir, ... Hemoglobin 36 (3), 283-288, 2012 | 3 | 2012 |