The Application of Clinical Genetics | Volume 17

Alshamlani LK, Alsulaim DS, Alabbad RS, Alhoshan AA, Alkhoder JF, Alsaleh NS, Almannai M, Ababneh F, Algattan M, Alsini L, Alswaid AF, Eyaid WM, Al Mutairi F, Umair M, Alfadhel M

The Application of Clinical Genetics 2024, 17:151-158

Published Date: 3 October 2024

Original Research

The Ser434Phe Androgen Receptor Gene Mutation Does Not Affect Fertility but is Associated with Increased Prolactin

Saadeh NA, Obeidat M, Shboul M

The Application of Clinical Genetics 2024, 17:143-149

Published Date: 26 September 2024

Case report

Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient

Salih OAMM, Erwa NHH, Abdelmoneim AH, Fadl HAO, Glanzmann B, Osman MAB, Osman MAH, Gasim TME, Mustafa A

The Application of Clinical Genetics 2024, 17:133-141

Published Date: 23 September 2024

Corrigendum

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache [Corrigendum]

Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E

The Application of Clinical Genetics 2024, 17:131-132

Published Date: 12 August 2024

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

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