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İbrahim Barış

Koc University
H指数:18
被引数:921

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Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype–Phenotype Correlations in Inherited Kidney Diseases

表型驱动的下一代测序和基于结构的计算机分析揭示遗传性肾脏疾病的疾病特异性诊断产率和基因型-表型相关性

Life
IF3.4
2026-04-050
OAAI
Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A-Related Intellectual Disability

Akkus, N.; Canbal, A.; Guneysu, S.; Gokce, E.; Duzgun, P.; Baris, İ. 对发育迟缓/智力障碍(DD/ID)、癫痫及首例被诊断为BCL11A相关智力障碍的土耳其患者的全外显子测序研究。Mol. Genet. Genomic Med. 2026, 14, e70180. [Google Scholar] [CrossRef] [PubMed]

2026-01-081
OAAI