Academician profile · PROFESÖR
KADRİ KARAER
- TIP FAKÜLTESİ
- DAHİLİ TIP BİLİMLERİ BÖLÜMÜ
Scopus (SJR)
Q1
10
Q2
17
Q3
13
Q4
10
WoS (JCR)
Q1
7
Q2
4
Q3
11
Q4
25
TR Index
13
articles
Articles
- 2025 Insights into KIF11 pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome from a lymphatic perspective.
- 2025 Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the SMO Gene
- 2025 Multi-omics analysis of placental metabolomics and transcriptomics datasets reveals comprehensive insights into the pathophysiology of preeclampsia.
- 2025 NRXN2 Homozygous Variant Identified in a Family with Global Developmental Delay, Severe Intellectual Disability, EEG Abnormalities and Speech Delay: A new Syndrome?
- 2024 Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease
- 2024 A case report of Hennekam syndrome with a mutation in the CCBE1 gene
- 2024 Noonan syndrome: molecular and clinical findings in individuals with PTPN11 pathogenic variants
- 2024 Coffin-Lowry syndrome: two novel variants in RPS6KA3 gene
- 2023 Evaluation of the frequency of MEFV gene variants in patients with a pre-diagnosis of Familial Mediterranean Fever (FMF) in southeast Turkey.
- 2023 The Molecular Spectrum of Beta-Thalassemia Mutations in Southeastern, Turkey
- 2022 Two novel variants in SCARF2 gene underlie van den Ende Gupta syndrome
- 2022 Early onset disease, anarthria, areflexia, and dystonia can be the distinctive features of SPG64, a very rare form of hereditary spastic paraplegias
- 2022 Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum
- 2022 Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes
- 2021 From cataract to syndrome diagnosis: Revaluation of Warburg-Micro syndrome Type 1 patients
- 2021 İnfertil erkek hastalarda karyotip analizi ve Y kromozom mikrodelesyon analiz sonuçları
- 2020 Autosomal recessive Robinow syndrome with novelROR2variants: distinct cases exhibiting the clinical variability
- 2020 Two cases of Nicolaides-Baraitser syndrome, one with a novelSMARCA2variant
- 2020 Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation
- 2020 VDR gene polymorphisms as a significant factor in unexplained infertility