All Stories

  1. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2016, De Gruyter

    Korcan Demir, Dr Erhan Pariltay

  2. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

    Article • Journal of Human Genetics, January 2015, Nature

    Dr Erhan Pariltay

  3. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

    Article • Journal of Human Genetics, October 2014, Nature

    Dr Erhan Pariltay

  4. Low Zip 4 gene expression levels in RPMI - 8226 and ARH - 77 cell lines support the possible role of zip 4 transporter protein in plasma cell tumorogenesis

    Article • Cumhuriyet Medical Journal, March 2013, Cumhuriyet Medical Journal

    Dr Erhan Pariltay

  5. Demonstration of Uniparental-Isodisomy on Chromosome 22q11.2 in a Patient With Childhood Schizophrenia and Facial Dysmorphology by Whole-Genome Analysis

    Article • Journal of Neuropsychiatry, January 2012, American Psychiatric Association

    Professor Hikmet Hakan Aydin, Dr Erhan Pariltay

  6. Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period

    Article • Journal of Genetic Counseling, January 2011, Springer Science + Business Media

    Dr Erhan Pariltay

  7. The Evaluation of the Referral Reasons of Patients at a Tertiary Pediatric Genetic Center in Izmir, Turkey

    Article • Genetic Testing and Molecular Biomarkers, April 2009, Mary Ann Liebert Inc

    Dr Erhan Pariltay

  8. Seckel syndrome with Morgagni hernia

    Article • Clinical Dysmorphology, July 2007, Wolters Kluwer Health

    Dr Erhan Pariltay