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The Application of Clinical Genetics
ISSN: 1178-704X
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- Volume 17, 2024 (14)
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Archive: Volume 17, 2024
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
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
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
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
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
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
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
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
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
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population
Wodelo W, Wampande EM, Andama A, Kateete DP, Ssekatawa K
The Application of Clinical Genetics 2024, 17:33-46
Published Date: 29 March 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
Preimplantation Genetic Testing for Aneuploidy Could Not Improve Cumulative Live Birth Rate Among 705 Couples with Unexplained Recurrent Implantation Failure
Liu Y, Lan X, Lu J, Zhang Q, Zhou T, Ni T, Yan J
The Application of Clinical Genetics 2024, 17:1-13
Published Date: 1 February 2024