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ISSN: 1178-704X


Archive: Volume 18, 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