All Stories

  1. A Turkish Patient with Spastic Paraplegia Type 4 with a De Novo Missense Mutation in the SPAST Gene

    Article • OSMANGAZİ JOURNAL OF MEDICINE, December 2024, Osmangazi Journal of Medicine

    Dr emine ikbal atli

  2. Next-Generation Sequencing Infertility Panel in Turkey: First Results

    Article • Balkan Journal of Medical Genetics, December 2024, De Gruyter

    Dr emine ikbal atli

  3. Evaluation of Cardiomyopathy-Related Target Genes by Next-Generation Sequencing Method and Investigation of the Phenotype-Genotype Relationship

    Article • Molecular Syndromology, November 2024, Karger Publishers

    Dr emine ikbal atli

  4. Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience

    Article • The European Research Journal, July 2023, The European Research Journal

    Dr emine ikbal atli

  5. The Correlation of Cystic Fibrosis Screening Test Results with Ultrasonographically Detected Fetal Anomalies in Prenatal Diagnosis

    Article • Bakirkoy Tip Dergisi / Medical Journal of Bakirkoy, June 2023, Journal of Clinical Research of Pediatric Endocrinology

    Dr emine ikbal atli

  6. Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy

    Article • Internal Medicine Journal, May 2022, Wiley

    Dr emine ikbal atli

  7. Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies

    Article • Taiwanese Journal of Obstetrics and Gynecology, May 2022, Elsevier

    Dr emine ikbal atli

  8. Comprehensive Genetic Analysis of RASopathy in the Era of Next-Generation Sequencing and Definition of a Novel Likely Pathogenic <b><i>KRAS</i></b> Variation

    Article • Molecular Syndromology, January 2022, Karger Publishers

    Dr emine ikbal atli

  9. First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25)

    Article • Molecular Syndromology, January 2022, Karger Publishers

    Dr emine ikbal atli

  10. Clinical Implications of Chromosome 16 Copy Number Variation

    Article • Molecular Syndromology, December 2021, Karger Publishers

    Dr emine ikbal atli

  11. Clinical Features of Aberrations Chromosome 22q: A Pilot Study

    Article • Global Medical Genetics, November 2021, Thieme Publishing Group

    Dr emine ikbal atli

  12. Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period

    Article • Global Medical Genetics, November 2021, Thieme Publishing Group

    Dr emine ikbal atli

  13. The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

    Article • Journal of Clinical Research in Pediatric Endocrinology, August 2021, Journal of Clinical Research of Pediatric Endocrinology

    Dr emine ikbal atli

  14. THE IMPORTANCE OF GENOME COPY NUMBER VARIATIONS IN CHILDREN WITH A DIAGNOSIS OF HYPOTONIA

    Article • Kocatepe Tıp Dergisi, July 2021, Kocatepe Medical Journal

    Dr emine ikbal atli

  15. Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

    Article • Molecular Syndromology, December 2020, Karger Publishers

    Dr emine ikbal atli

  16. Can We Use Targeted Next-Generation Sequencing an Alternative Method to the Conventional Tests in Haematological Malignancies?

    Article • August 2020, Research Square

    Dr emine ikbal atli

  17. A Child with 5q Deletion and Accompanying Chiari 1 Malformation

    Article • The Indian Journal of Pediatrics, July 2020, Springer Science + Business Media

    Dr emine ikbal atli

  18. Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

    Article • Journal of Clinical Investigation, June 2020, American Society for Clinical Investigation

    Dr emine ikbal atli

  19. Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report

    Article • Fetal and Pediatric Pathology, May 2019, Taylor & Francis

    Cihan Inan, Dr Hakan Gurkan, Isil Uzun, Dr emine ikbal atli

  20. Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

    Article • Balkan Journal of Medical Genetics, December 2018, De Gruyter

    Dr emine ikbal atli

  21. A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

    Article • Balkan Journal of Medical Genetics, January 2015, De Gruyter

    Dr emine ikbal atli