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The Application of Clinical Genetics

ISSN: 1178-704X


Archive: Volume 17, 2024

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

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

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

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

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

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

Ciro Acosta S, Díaz-Ordóñez L, Gutierrez-Medina JD, Silva-Cuero YK, Arango-Vélez LG, García-Trujillo AO, Pachajoa H

The Application of Clinical Genetics 2024, 17:23-32

Published Date: 20 February 2024

Healthcare Burden in Greenland of Gastrointestinal Symptoms in Adults with Inherited Loss of Sucrase-Isomaltase Function

Andersen K, Hansen T, Jørgensen ME, Senftleber N

The Application of Clinical Genetics 2024, 17:15-21

Published Date: 2 February 2024