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Pediatric Blood & Cancer|April 18, 2009
Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemiaNeriman Sari, Canan Akyuz, Dilek Aktas, et al.
European Journal of Medical Genetics|April 29, 2008
Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGHEda G Utine, Yasemin Alanay, Dilek Aktas, et al.
Molecular Syndromology|November 23, 2020
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in HypoglycemiaDogus Vuralli, Can Kosukcu, Ekim Taskiran, et al.
Zeitschrift Fur Geburtshilfe Und Neonatologie|May 28, 2019
Metabolic Infrastructure of Pregnant Women With Trisomy 21 Fetuses; Metabolomic AnalysisEmirhan Nemutlu, Gokcen Orgul, Tuba Recber, et al.
Molecular Syndromology|January 29, 2021
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from TurkeyHande Taylan Sekeroglu, Beren Karaosmanoglu, Ekim Z Taskiran, et al.
Fetal and Pediatric Pathology|July 16, 2019
Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic TestingNaz Guleray, Can Kosukcu, Zihni Ekim Taskiran, et al.
Molecular Cytogenetics|June 1, 2010
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pairDilek Aktas, Eda G Utine, Kristin Mrasek, et al.
Nutrients|January 21, 2022
Interaction between Dietary Fat Intake and Metabolic Genetic Risk Score on 25-Hydroxyvitamin D Concentrations in a Turkish Adult PopulationKubra Isgin-Atici, Buthaina E Alathari, Busra Turan-Demirci, et al.
European Journal of Medical Genetics|April 29, 2018
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonatePelin Ozlem Simsek-Kiper, Can Kosukcu, Ozlem Akgun-Dogan, et al.
European Journal of Medical Genetics|March 4, 2021
Genetic disorders with symptoms mimicking rheumatologic diseases: A single-center retrospective studyUmmusen Kaya Akca, Pelin Ozlem Simsek Kiper, Gizem Urel Demir, et al.
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