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The Application of Clinical Genetics

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ISSN: 1178-704X

Archive: Volume 19, 2026

A Novel Deep-Intronic CFAP44 Variant Underlies Multiple Morphological Abnormalities of the Sperm Flagella

Ma Y, Yang Y, Zhang T, Hu D, Zhao Y, Mai X, Ni J, Zhang J

The Application of Clinical Genetics 2026, 19:609696

Published Date: 24 June 2026

Genetic Polymorphisms of Transforming Growth Factor Receptors (TGF-βRI, TGF-βRII) and Risk Factors Associated with Keloid Scars in Burkina Faso: A Cross-Sectional Study

Keto KA, Belemsigri D, Soubeiga ST, Bonkoungou M, Gadiaga HNB, Compaore B, Sorgho PA, Yonli AT, Djigma WF, Simpore J, Niamba P

The Application of Clinical Genetics 2026, 19:602982

Published Date: 15 May 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

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

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