All Stories

  1. Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants

    Article • Gazi Medical Journal, April 2024, Journal of Clinical Research of Pediatric Endocrinology

    VEHAP TOPÇU

  2. Expanding the mutational spectrum ofGCKin Turkish pediatric population

    Article • February 2024, Cold Spring Harbor Laboratory Press

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  3. Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in <i>GRK2:</i> A Newly Associated Gene for Jeune Syndrome Phenotype

    Article • Molecular Syndromology, November 2023, Karger Publishers

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  4. Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation

    Article • Neurology Asia, September 2021, ASEAN Neurological Association

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  5. A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

    Article • Ophthalmic Genetics, April 2016, Informa Healthcare

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  6. Lumbosacral spina bifida in a case with Pallister-Killian syndrome

    Article • Cumhuriyet Medical Journal, March 2016, Cumhuriyet Medical Journal

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  7. A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome

    Article • Journal of the Turkish-German Gynecological Association, March 2016, Journal of Clinical Research of Pediatric Endocrinology

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  8. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Article • Neuron, November 2015, Elsevier

    Dr Serkan Erdin, VEHAP TOPÇU, ozlem sezer

  9. Severe Insulin Resistance Alters Metabolism in Mesenchymal Progenitor Cells

    Article • Endocrinology, June 2015, Endocrine Society

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  10. The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): Clinical report

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    sibel ozler, VEHAP TOPÇU

  11. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2015, De Gruyter

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  12. ADAMTS4 and ADAMTS5 Knockout Mice Are Protected from Versican but Not Aggrecan or Brevican Proteolysis during Spinal Cord Injury

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

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  13. ADAMTS1, ADAMTS5, ADAMTS9 and aggrecanase-generated proteoglycan fragments are induced following spinal cord injury in mouse

    Article • Neuroscience Letters, June 2013, Elsevier

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  14. A potential association between the number of CA repeats in the promoter region of the ADAMTS9 gene with lymphatic metastasis of breast cancer

    Article • TURKISH JOURNAL OF MEDICAL SCIENCES, January 2013, The Scientific and Technological Research Council of Turkey

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