Bilimsel çalışmalar

Doç. Dr. Sebile Kılavuz

62 yayın. Her yayının yanında bilginin kaynağı yazar.

Profile dön

  1. A 6-Month-Old Boy with Reddish, Scaly Skin: Netherton Syndrome

    The Journal of Pediatric Research, 2018

    DOI 10.4274/jpr.63825 Açık erişimli tam metinKaynak: ORCID

  2. A case with Pallister-Killian syndrome misdiagnosed as mucopolysaccharidosis

    Molecular Genetics and Metabolism, 2018

    DOI 10.1016/j.ymgme.2017.12.264 Kaynak: ORCID

  3. Cukurova University experience of lysosomal diseases in adulthood: Report of 57 patients

    Molecular Genetics and Metabolism, 2018

    DOI 10.1016/j.ymgme.2017.12.263 Kaynak: ORCID

  4. Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience

    The Journal of Pediatric Research, 2018

    DOI 10.4274/jpr.20982 4 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

  5. Early onset alpha-mannosidosis: A Turkish case

    Molecular Genetics and Metabolism, 2018

    DOI 10.1016/j.ymgme.2017.12.265 Kaynak: ORCID

  6. Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey

    Metabolic Brain Disease, 2018

    DOI 10.1007/s11011-018-0236-0 PMID 29656334 7 atıf (Europe PMC) Kaynak: ORCID

  7. Mucopolysaccharidosis type VI, 9 sibling pairs and 1 set of three siblings: single center experience from Turkey

    Molecular Genetics and Metabolism, 2018

    DOI 10.1016/j.ymgme.2017.12.266 Kaynak: ORCID

  8. Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency

    Metabolic Brain Disease, 2018

    DOI 10.1007/s11011-017-0152-8 PMID 29159724 3 atıf (Europe PMC) Kaynak: ORCID

  9. WOLFRAM SENDROMU: WFS GENİNDE WES İLE YENİ BİR MUTASYON SAPTANAN OLGU SUNUMU

    AYBU AVESIS, 2017

    Kaynak: OpenAlex

  10. Causes of precocious puberty in children referred to an Endocrine Unit in Northwest of Turkey

    Endocrine Abstracts, 2015

    DOI 10.1530/endoabs.39.ep76 Açık erişimli tam metinKaynak: OpenAlex

  11. Symmetrical drug-related intertriginous and flexural exanthema induced by two different antibiotics

    Allergologia et Immunopathologia, 2014

    DOI 10.1016/j.aller.2012.10.005 PMID 23253684 3 atıf (Europe PMC) Kaynak: ORCID

  12. Erken puberte tanılı olguların geriye dönük olarak değerlendirilmesi

    Trakya University's Institutional Open Access System (Trakya University), 2012

    Açık erişimli tam metinKaynak: OpenAlex