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The Application of Clinical Genetics
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Archive: Volume 18, 2025
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases
Fichna JP, Elert-Dobkowska E, Radziwonik-Fraczyk W, Ziora-Jakutowicz K, Wężyk MM, Berdyński M, Zaremba J, Żekanowski C, Bednarska-Makaruk M
The Application of Clinical Genetics 2025, 18:283-290
Published Date: 24 December 2025
Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China
Chen G, Huang P, Li H, Zheng B, Sun Y
The Application of Clinical Genetics 2025, 18:275-282
Published Date: 23 December 2025
Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings
Nojehdeh ST, Fattahi T, Arish S, Mokabber H, Nobakht R, Davarnia S, Davarnia B
The Application of Clinical Genetics 2025, 18:267-274
Published Date: 19 December 2025
The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study
Zhang C, Gao L, Gong M, Liu C, Zhang D, Li Z
The Application of Clinical Genetics 2025, 18:251-266
Published Date: 4 December 2025
Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy
Yuan Q, Liu C, Lu Y, Han X, Wang Z, Yuan Y, Xie Z
The Application of Clinical Genetics 2025, 18:243-249
Published Date: 25 November 2025
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion
Chetta M, Salamandra A, Tarsitano M, D’Antonio M, Sannino E, Torre S, Fatigati C, Costantini S, D’Ambrosio P, Priolo M, Ricchi P
The Application of Clinical Genetics 2025, 18:233-241
Published Date: 12 November 2025
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future
Alfadhel M, AlHashem A, Kurdi W, Tulbah M, AlGamdi S, Almannai M, AlAmoudi I, AlEissa MM, AlAgil N, Tashkandi S, Awad N, Ojeil R
The Application of Clinical Genetics 2025, 18:219-231
Published Date: 27 October 2025
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy
Wayhelova M, Peldova P, Krebsova A, Nemcikova M, Sojka M, Macek M
The Application of Clinical Genetics 2025, 18:211-217
Published Date: 17 October 2025
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
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
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
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
A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q – “Case Report”
Abi Chakra N, Yazbeck N, Fattah MO, Hanna-Wakim R
The Application of Clinical Genetics 2025, 18:147-152
Published Date: 29 July 2025
Long-Term Donor Chimerism Monitoring for Relapse Risk Assessment After Pediatric Allo-HSCT
Prażmo A, Skowera P, Zaucha-Prazmo A, Lejman M
The Application of Clinical Genetics 2025, 18:131-146
Published Date: 24 July 2025
The Impact of FSHR Polymorphisms (rs6165 and rs6166) on Ovarian Response to Stimulation in Infertile Women with Diminished Ovarian Reserve
Hoang TTT, Trinh ST, Nguyen NN, Ho MN, Pham MD, Hoang NT, Trieu ST, Ho HS
The Application of Clinical Genetics 2025, 18:119-129
Published Date: 12 July 2025
Coexistence of Hereditary Hemorrhagic Telangiectasia and Moyamoya Disease: A Case Report Highlighting a Potential Genetic Synergy
Liu S, Meng L, Wan Y, Liu S, Shi L
The Application of Clinical Genetics 2025, 18:113-117
Published Date: 10 July 2025
A Systematic Review of SNPs Screening for Platinum-Related Pharmacodynamics and Pharmacokinetics Genes in Non-Small Cell Lung Cancer for Precision Medicine
Afifah NN, Larasati AL, Wijaya I, Zakiyah N, Intania R, Obinata H, Barliana MI
The Application of Clinical Genetics 2025, 18:93-112
Published Date: 27 June 2025
Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H
The Application of Clinical Genetics 2025, 18:81-91
Published Date: 12 June 2025
Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F
The Application of Clinical Genetics 2025, 18:73-80
Published Date: 5 June 2025
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi–Hünermann–Happle Syndrome Presenting with Hydronephrosis
Qiao F, Zeng H, Zhang C, Wang Y, Wang Y, Zhou R, Meng L, Hu P, Xu Z
The Application of Clinical Genetics 2025, 18:63-72
Published Date: 14 May 2025
The Frequency of CYP2C19*2 Gene Polymorphisms in Burkina Faso Patients Treated with Clopidogrel
Kagambèga YD, Ouattara AK, Ouédraogo TWC, Traoré L, Yaméogo NV, Simpore J
The Application of Clinical Genetics 2025, 18:55-61
Published Date: 1 May 2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
Fernández Martínez FJ, Gil Mira MM, González González C, Madrigal Bajo I, Oancea Ionescu R, Orellana Alonso C
The Application of Clinical Genetics 2025, 18:41-53
Published Date: 26 April 2025
Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam
Trieu ST, Pham MD, Le H, Vo HV, Nguyen PV, Tran TV, Nguyen NN, Trinh ST
The Application of Clinical Genetics 2025, 18:29-40
Published Date: 11 April 2025
Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience
Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T
The Application of Clinical Genetics 2025, 18:9-27
Published Date: 14 February 2025
Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports
Gordon M, Gangemi AJ, Sandwith EL, Kumaran M, Kueppers F
The Application of Clinical Genetics 2025, 18:1-7
Published Date: 28 January 2025