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Refined by: collection: PMC (PubMed Central) remove language: Turkish remove subject: Mutation remove
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Von Hippel-Lindau Disease: The Importance of Retinal Hemangioblastomas in Diagnosis

Turkish Journal of Ophthalmology, 2017, Vol.47(3), p.180-183 [Peer Reviewed Journal]

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Premature Coronary Artery Disease due to Homozygous Familial Hypercholesterolemia in a 12-Year-Old Girl.

Balkan medical journal, March 15, 2018, Vol.35(2), pp.208-211 [Peer Reviewed Journal]

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Congenital Hyperinsulinism: Diagnosis and Treatment Update

Journal of clinical research in pediatric endocrinology, 30 December 2017, Vol.9(Suppl 2), pp.69-87 [Peer Reviewed Journal]

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Familial Exudative Retinopathy: A Case and Family Analysis

Turkish Journal of Ophthalmology, 2018, Vol.48(4), p.212-214 [Peer Reviewed Journal]

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Goldmann-Favre Syndrome: Case Series

Turk Oftalmoloji Dergisi, Feb 2018, Vol.48(1), pp.47-51 [Peer Reviewed Journal]

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A novel variant in SYNE4 confirms its causative role in sensorineural hearing loss

Balkan Medical Journal, 2018, Vol.35(2), pp.196-198 [Peer Reviewed Journal]

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O6-methylguanine-DNA methyltransferase promoter methylation in patients with rectal adenocarcinoma after chemoradiotherapy treatment: Clinical implications

Balkan Medical Journal, 2019, Vol.36(5), pp.283-286 [Peer Reviewed Journal]

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Swept-source Optical Coherence Tomography Angiography in a Patient with Bietti Crystalline Dystrophy Followed for Ten Years

Turk Oftalmoloji Dergisi, Apr 2019, Vol.49(2), pp.106-108 [Peer Reviewed Journal]

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CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia

Journal of Clinical Research in Pediatric Endocrinology, Mar 2018, pp.83-86 [Peer Reviewed Journal]

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The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years

Journal of Clinical Research in Pediatric Endocrinology, 2018, Vol.10(1), p.30-37 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Darendeliler,Fatma Feyza
  2. Kurnaz, Erdal
  3. Berberoğlu, Merih
  4. Şıklar, Zeynep
  5. Cetinkaya, Semra

on this subject:

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  2. Medicine
  3. Female
  4. Case Report
  5. T?P

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