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The Application of Clinical Genetics

ISSN: 1178-704X


       

Editor-in-Chief: Martin Henrik Maurer

An international, peer-reviewed, open access, online journal that welcomes laboratory and clinical findings in the field of human genetics.

This journal is a member of and subscribes to the principles of the Committee on Publication Ethics (COPE).

Articles:

Latest articles:

- 5 records -

Original Research

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

Case Series

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

Case report

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

Original Research

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

Expert Opinion

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


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