Akademisyen
BERRAK BİLGİNER GÜRBÜZ
DOÇENT
ANKARA YILDIRIM BEYAZIT ÜNİVERSİTESİ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Çocuk Sağlığı ve Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
Kayıtlı çıktılara kısa bakış — ayrıntılar aşağıda.
- Makale 43
- Proje 0
- Kitap 9
- Bildiri 43
- Patent 0
- Sanatsal 0
Scopus (SJR)
Q1
3
Q2
9
Q3
20
Q4
4
WoS (JCR)
Q1
1
Q2
7
Q3
7
Q4
24
TR Index
13
makale
Alan+yıl+tür normalize OpenAlex yüzdelik — Clarivate ESI / SciVal değildir.
Üst %1 makale
0
Üst %10 makale
0
Ort. yüzdelik
50.7%
Üst %1 payı
0.0%
Üst %10 payı
0.0%
Makaleler
YÖKSİS ve OpenAlex kaynak ayrımıyla makaleler; quartile ve TR Index ile daraltabilirsiniz.
Makale listesi
- 2026 A Case Report: Diagnostic Route of a Patient with PLA2G6-Infantile Neuroaxonal Dystrophy and Familial Hyperlipidemia YÖKSİS SJR Q3 JCR Q4 OpenAlex 62.2%
- 2025 Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye YÖKSİS TR Index SJR Q3 JCR Q2 OpenAlex 15.4%
- 2025 Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy YÖKSİS SJR Q3 JCR Q4 OpenAlex 17.8%
- 2025 Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye YÖKSİS SJR Q3 JCR Q3 OpenAlex 81.3%
- 2025 D-bifunctional protein deficiency type III: Two Turkish cases and a novel HSD17B4 gene variant YÖKSİS SJR Q3 JCR Q4 OpenAlex 67.8%
- 2025 Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect YÖKSİS SJR Q3 JCR Q4 OpenAlex 52.4%
- 2025 Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha‐Mannosidosis YÖKSİS SJR Q1 JCR Q2 OpenAlex 88.6%
- 2025 Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease YÖKSİS SJR Q3 JCR Q4 OpenAlex 19.0%
- 2025 Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis YÖKSİS SJR Q3 JCR Q4 OpenAlex 28.2%
- 2025 A Patient with Organic Acidemia, Hyperammonemia and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome YÖKSİS SJR Q3 JCR Q4 OpenAlex 7.3%
- 2025 Clinical Features, Genetic Spectrum, and Outcome of Hereditary Tyrosinemia Type 1: A Multicenter Study from Southeastern Türkiye YÖKSİS TR Index JCR Q4 OpenAlex 6.3%
- 2025 Evaluation of the Effect of Diet Adherence on Nutritional Status and Metabolic Control in Children with Phenylketonuria Consuming a Phenylalanine-Restricted Diet: A Single-Center Study YÖKSİS TR Index OpenAlex 60.3%
- 2024 Heart Diseases in Patients with Organic Acidemia YÖKSİS TR Index OpenAlex 2.0%
- 2024 Mitochondrial phosphate‐carrier deficiency mimicking infantile‐onset Pompe disease YÖKSİS SJR Q2 JCR Q3 OpenAlex 63.3%
- 2024 A Rare Treatable Cause of Cardiomyopathy: Primary Carnitine Deficiency YÖKSİS SJR Q3 JCR Q4 OpenAlex 66.0%
- 2024 Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency YÖKSİS SJR Q1 JCR Q1 OpenAlex 80.5%
- 2022 Does glutaric aciduria type 1 affect hearing function? YÖKSİS SJR Q2 JCR Q2 OpenAlex 5.4%
- 2021 Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delc and a novel c.408c>a variant YÖKSİS TR Index SJR Q3 JCR Q4 OpenAlex 56.0%
- 2021 Cardiomyopathy in patients with type 1 tyrosinemia, and the effect of nitisinone treatment on cardiomyopathy YÖKSİS TR Index JCR Q3 OpenAlex 14.0%
- 2021 Fenilketonüri Kampının Fenilketonürili Adölesanların Bilgi ve Davranışları Üzerindeki Etkileri YÖKSİS TR Index OpenAlex 40.6%