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 -

Case report

A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied

Zhang S, Ma Y, Zang X, Heng H, Liu X, Peng G, Liu R, Liang J, Geng H

The Application of Clinical Genetics 2024, 17:125-130

Published Date: 16 July 2024

Case report

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child – A Case Report

Ręka G, Wojciechowska K, Lejman M

The Application of Clinical Genetics 2024, 17:117-124

Published Date: 15 July 2024

Original Research

Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians

Khongthon N, Theeraviwatwong M, Wichajarn K, Rojnueangnit K

The Application of Clinical Genetics 2024, 17:107-115

Published Date: 4 July 2024

Original Research

The Diversity of CYP2C19 Polymorphisms in the Thai Population: Implications for Precision Medicine

Nakhonsri V, John S, Panumasmontol H, Jantorn M, Chanthot P, Hanpramukkun N, Meelarp S, Sukasem C, Tongsima S, Hasatsri S, Prawang A, Thaingtamtanha T, Vanwong N, Atasilp C, Chamnanphon M, Jinda P, Satapornpong P

The Application of Clinical Genetics 2024, 17:95-105

Published Date: 2 July 2024

Original Research

Application of Chromosomal Microarray Analysis in Genetic Reasons of Miscarriage Tissues

Xu Z, Liu N, Gao L, Yu D

The Application of Clinical Genetics 2024, 17:85-93

Published Date: 31 May 2024