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Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
Pasińska M, Rusecka JM, Sobczyńska-Tomaszewska A, Pasiński M
The Application of Clinical Genetics 2025, 18:199-210
Published Date: 4 October 2025
Exome Sequencing Analysis and Clinical Features of a Chinese Patient with 3M Syndrome and A Review of Literature
Chen XL, Zheng DS, Shen YF, Lin ZL, Chen SQ, Xiao XM
The Application of Clinical Genetics 2025, 18:189-197
Published Date: 2 October 2025
Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort
Li H, He Y, Cai Z, Che Q, Wu Y, Zhou M, He Z, Zhao L
Pharmacogenomics and Personalized Medicine 2025, 18:239-250
Published Date: 10 September 2025
Hemizygous IL2RG Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency
Zhang N, Sang YL, Zhu W, Wang YR, Yu YY, Chen YH, Du J, He WB, Tan YQ, Wang FY
The Application of Clinical Genetics 2025, 18:175-187
Published Date: 6 September 2025
Ulcerative Colitis: Advances in Pathogenesis, Biomarkers, and Therapeutic Strategies
Bu S, Cheng X, Chen M, Yu Y
Pharmacogenomics and Personalized Medicine 2025, 18:219-238
Published Date: 5 September 2025
Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family
Bernal-Bonilla IT, Arias-Florez JS, Ramirez SX, Bayona-Gomez BA, Castro-Castillo L, Correa-Martinez V, Sanchez-Gomez Y, Santiago-Tovar N, Gaviria-Sabogal CC, Contreras Bravo NC, Cabrera R, Morel A, Fonseca-Mendoza DJ, Restrepo CM
The Application of Clinical Genetics 2025, 18:165-173
Published Date: 4 September 2025
Association Between ABCB1 Gene Polymorphism with Hyperglycemia and MACE in Patients Undergoing Clopidogrel Treatment After PCI
Zhou B, Shi C, Xu Q, Wei Y, Zhang S, Wang X, An X
Pharmacogenomics and Personalized Medicine 2025, 18:209-217
Published Date: 25 August 2025
The Prevalence of Potential Drug-Drug-Gene Interactions: A Descriptive Study Using Swiss Claims Data
Wittwer NL, Meier CR, Huber CA, Moser JD, Meyer zu Schwabedissen HE, Allemann SS, Schneider C
Pharmacogenomics and Personalized Medicine 2025, 18:197-208
Published Date: 23 August 2025
Dual EGFR L858R and KRAS G12A Mutations in Lung Adenocarcinoma: A Rare Case Report and Literature Review
Wei G, Tang J, Wang H, Zhang D
Pharmacogenomics and Personalized Medicine 2025, 18:189-196
Published Date: 22 August 2025
Differential Responses to Targeted Therapies in Non-Small Cell Lung Cancer: A Comparative Analysis of Outcomes in Patients with Single EGFR Mutation and Concurrent Gene Alterations
Le LT, Nguyen NV, Trinh HL, Van Le Q, Dao THT, Nguyen Ngoc S, Van LD, Thi Nguyen T
The Application of Clinical Genetics 2025, 18:153-164
Published Date: 31 July 2025