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The Application of Clinical Genetics
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Archive: Volume 19, 2026
Clinical Feasibility of Early First-Trimester Non-Invasive Prenatal Testing: Associations Between Gestational Age, Fetal Fraction, and No-Call Rates
Son TT, Tien ST, Khoa TV, Ho HS, Thi Thu HL, Nguyen NN, Son DT, Van PN, Pham MD, Doan HT
The Application of Clinical Genetics 2026, 19:599716
Published Date: 29 April 2026
Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
Miller DC, Chawla D, Pierson S, Johansen Taber K
The Application of Clinical Genetics 2026, 19:591410
Published Date: 16 April 2026
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
Górecki M, Jaszczuk I, Lejman M
The Application of Clinical Genetics 2026, 19:549665
Published Date: 2 April 2026
Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A
The Application of Clinical Genetics 2026, 19:579472
Published Date: 27 March 2026
Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient
Pastucha D, Aleksijevic D, Hyjanek J, Vesely O, Klaskova E, Kolarikova K, Vodicka R
The Application of Clinical Genetics 2026, 19:584482
Published Date: 9 March 2026
Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) – Case Study
Duchnowska E, Kosztyła-Hojna B, Zdrojkowski M, Burton-Jones S, Kułak W
The Application of Clinical Genetics 2026, 19:574913
Published Date: 7 March 2026
TNF-α rs1800629 Polymorphism in Vietnamese COPD Patients: Exploratory Evidence for Recessive Protective Association and Clinical Correlates
Nguyen HM, Le DHH, Ho TTH, Nguyen PDHA, Nguyen TH, Phan VNT, Nguyen THN
The Application of Clinical Genetics 2026, 19:586977
Published Date: 23 February 2026
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
Duque-Cordoba PA, Diaz-Ordoñez L, Carvajal-del-Castillo L, Marmolejo D, Leal AF, Pachajoa H
The Application of Clinical Genetics 2026, 19:570428
Published Date: 13 February 2026
Routine Excision, Rare Diagnosis: Solitary Neurofibroma Prompting NF1 Screening in an Adolescent
Alquaimi MM
The Application of Clinical Genetics 2026, 19:549653
Published Date: 6 February 2026
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement
Zheng G, Xu C, Xie F, Li Q, Ou Z, Wang D, Li H
The Application of Clinical Genetics 2026, 19:573156
Published Date: 22 January 2026
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A
The Application of Clinical Genetics 2026, 19:567210
Published Date: 14 January 2026