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©2010-2026 Evrim Ağacı

Elif Yılmaz Güleç

Akademisyen
Alan
Tıp
Üniversite
İstanbul Medeniyet Üniversitesi
Fakülte ve Bölüm
Tıp Fakültesi

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Akademik Profiller

ORCID

Yayınlar

Tüm Yayınlar
  1. 1
    Two Siblings with Missense Homozygous ABCA3 R43H Mutation Showing Good Response to GlucocorticoidIndian Journal of Pediatrics
    2025
  2. 2
    C-terminal TREX1 c.914A>G variant in a patient with IgA nephropathy and thrombotic microangiopathy: expanding the clinical and genetic spectrum of IgA nephropathy with microangiopathic lesionsClinical Kidney Journal
    2025
  3. 3
    Down syndrome, from pregnancy through childhood in TurkiyeMolecular Syndromology
    2025
  4. 4
    Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variabilityEndocrine
    2025
  5. 5
    A Case of Primary Ciliary Dyskinesia Syndrome with Situs AmbiguousRespiratory Case Reports
    2024
  6. 6
    A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from TurkeyJCRPE Journal of Clinical Research in Pediatric Endocrinology
    2024
  7. 7
    An intermediate SMARCA2-related phenotype with non-compaction hypertrophic cardiomyopathyEuropean Journal of Human Genetics
    2024
  8. 8
    Koolen-de Vries syndrome: Two patients with 17q21.31 microdeletion and de novo KANSL1 variantEuropean Journal of Human Genetics
    2024
  9. 9
    An intermediate phenotype in IDH related enchondromatosis spectrumEuropean Journal of Medical Genetics
    2023

Yayın listesi ORCID kaydından alındı.