Akademisyen
ERCAN MIHÇI
PROFESÖR
AKDENİZ ÜNİVERSİTESİ TIP FAKÜLTESİ DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
- Ana Dal Sağlık Bilimleri Temel Alanı
- Yan Dal Çocuk Genetik Hastalıkları (Çocuk Sağlığı ve Hastalıkları)
Kayıtlı çıktılara kısa bakış — ayrıntılar aşağıda.
- Makale 97
- Proje 0
- Kitap 4
- Bildiri 44
- Patent 0
- Sanatsal 0
Scopus (SJR)
Q1
21
Q2
31
Q3
17
Q4
7
WoS (JCR)
Q1
14
Q2
13
Q3
22
Q4
28
TR Index
13
makale
Alan+yıl+tür normalize OpenAlex yüzdelik — Clarivate ESI / SciVal değildir.
Üst %1 makale
0
Üst %10 makale
1
Ort. yüzdelik
73.5%
Üst %1 payı
0.0%
Üst %10 payı
5.0%
Makaleler
YÖKSİS ve OpenAlex kaynak ayrımıyla makaleler; quartile ve TR Index ile daraltabilirsiniz.
Makale listesi
- 2025 Association of Certain Biochemical Parameters Related to Bone Cycle with Genotype in MPS III-B Patients YÖKSİS
- 2025 Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1 YÖKSİS
- 2025 Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals YÖKSİS SJR Q2 JCR Q4 OpenAlex 84.5%
- 2025 Insights on 7p21 deletion including the TWIST1 gene: a case report of an adult patient with macroglossia and a literature review YÖKSİS SJR Q4 JCR Q4
- 2025 A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency YÖKSİS SJR Q3 JCR Q4
- 2023 The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review YÖKSİS SJR Q2 JCR Q3 OpenAlex 82.9%
- 2023 Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant YÖKSİS TR Index SJR Q3 JCR Q4
- 2023 Phenotypic and Molecular Spectrum of a Turkish Cohort with Hereditary Multiple Osteochondromas YÖKSİS TR Index SJR Q3 JCR Q3
- 2022 Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA YÖKSİS SJR Q2 JCR Q2
- 2022 Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium YÖKSİS SJR Q2 JCR Q3 OpenAlex 75.1%
- 2022 Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects YÖKSİS TR Index SJR Q3 JCR Q4
- 2022 Novel Gene Variants Associated with Primary Ciliary Dyskinesia YÖKSİS SJR Q2 JCR Q1
- 2022 FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center YÖKSİS TR Index SJR Q4 JCR Q4
- 2021 Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability YÖKSİS SJR Q3 JCR Q4 OpenAlex 67.9%
- 2021 Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey YÖKSİS SJR Q2 JCR Q3 OpenAlex 70.0%
- 2021 Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience YÖKSİS SJR Q2 JCR Q2
- 2020 Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience YÖKSİS SJR Q2 JCR Q3 OpenAlex 73.2%
- 2020 DOUBLE PARTIAL TRISOMY OF 6p23-pter AND 9pter-q21.2 IN A NEONATE RESULTING FROM 4:2 MEIOTIC SEGREGATION OF A MATERNAL COMPLEX t(679) (p23p15q21.2) TRANSLOCATION YÖKSİS SJR Q4 JCR Q4
- 2020 INTERSTITIAL DELETION OF 13q22-q32: A CASE WITH CHOANAL ATRESIA AND MEGA-CISTERNA MAGNA AND REVIEW OF THE LITERATURE YÖKSİS SJR Q4 JCR Q4
- 2020 Oral-Facial-Digital Syndrome Type 1 YÖKSİS SJR Q3 JCR Q4