All Stories

  1. Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature

    Article • Journal of Child Neurology, November 2018, SAGE Publications

    Reha Toydemir

  2. Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey

    Article • Cytogenetic and Genome Research, November 2018, Karger Publishers

    Reha Toydemir

  3. Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions

    Article • American Journal of Medical Genetics Part A, October 2018, Wiley

    Reha Toydemir

  4. 8. An evidence-based approach to guide IGH-based reflex testing for plasma cell neoplasms

    Article • Cancer Genetics, August 2018, Elsevier

    Reha Toydemir

  5. Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis

    Article • Annals of Laboratory Medicine, January 2018, Korean Society for Laboratory Medicine (KAMJE)

    Reha Toydemir

  6. Developmental Delay and Colon Polyposis

    Article • Gastroenterology, October 2017, Elsevier

    Reha Toydemir

  7. Clinical features of trisomy 12 mosaicism-Report and review

    Article • American Journal of Medical Genetics Part A, March 2017, Wiley

    Reha Toydemir

  8. Trisomy 12 Mosaicism Detected by Genomic Microarray in a Newborn Child

    Article • Cancer Genetics, May 2016, Elsevier

    Reha Toydemir

  9. Intellectual Disability and Developmental Delay: Cytogenetic Testing

    Article • January 2016, Springer Science + Business Media

    Reha Toydemir

  10. The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip

    Article • Journal of Pediatric Orthopaedics, February 2015, Wolters Kluwer Health

    Reha Toydemir

  11. Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities

    Article • Leukemia & Lymphoma, August 2014, Taylor & Francis

    Reha Toydemir

  12. L1CAMwhole gene deletion in a child with L1 syndrome

    Article • American Journal of Medical Genetics Part A, March 2014, Wiley

    Reha Toydemir

  13. FCER2 (Fc fragment of IgE, low affinity II, receptor for (CD23))

    Article • Atlas of Genetics and Cytogenetics in Oncology and Haematology, March 2012, INIST-CNRS

    Reha Toydemir

  14. A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia

    Article • American Journal of Medical Genetics Part A, March 2011, Wiley

    Reha Toydemir

  15. Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes

    Article • Cancer Genetics and Cytogenetics, September 2010, Elsevier

    Reha Toydemir

  16. Sheldon-Hall syndrome

    Article • Orphanet Journal of Rare Diseases, January 2009, Springer Science + Business Media

    Reha Toydemir

  17. A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

    Article • The American Journal of Human Genetics, November 2006, Elsevier

    Reha Toydemir

  18. A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7

    Article • American Journal of Medical Genetics Part A, October 2006, Wiley

    Reha Toydemir

  19. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

    Article • Nature Genetics, April 2006, Springer Science + Business Media

    Reha Toydemir

  20. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation ofMYH8

    Article • American Journal of Medical Genetics Part A, January 2006, Wiley

    Reha Toydemir

  21. Whistling face syndrome with normal hands and feet

    Article • American Journal of Medical Genetics, January 2001, Wiley

    Reha Toydemir

  22. Whistling face phenotype without limb abnormalities

    Article • American Journal of Medical Genetics, September 1999, Wiley

    Reha Toydemir