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

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

Case report

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

Du N, Wang X, Wang Z, Liu H, Liu H, Duan H, Zhao S, Banerjee S, Zhang X

The Application of Clinical Genetics 2024, 17:71-84

Published Date: 31 May 2024

Case report

Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report

Wang Y, Bi S, Shi X, Dai L

The Application of Clinical Genetics 2024, 17:63-69

Published Date: 27 May 2024

Short Report

Functional Analysis of BRCA1 3’UTR Variants Predisposing to Breast Cancer

Sierra-Díaz DC, Cabrera R, Gonzalez-Vasquez LA, Angulo-Aguado M, Llinás-Caballero K, Fonseca-Mendoza DJ, Contreras-Bravo NC, Restrepo CM, Ortega-Recalde O, Morel A

The Application of Clinical Genetics 2024, 17:57-62

Published Date: 23 May 2024

Original Research

Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam

Sang TT, Tran Van K, Tung NT, Nguyen Van P, Hoang PT

The Application of Clinical Genetics 2024, 17:47-56

Published Date: 6 May 2024