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ISSN: 1178-704X
- View all (320)
- Volume 18, 2025 (8)
- Volume 17, 2024 (23)
- Volume 16, 2023 (20)
- Volume 15, 2022 (16)
- Volume 14, 2021 (37)
- Volume 13, 2020 (23)
- Volume 12, 2019 (30)
- Volume 11, 2018 (23)
- Volume 10, 2017 (12)
- Volume 9, 2016 (22)
- Volume 8, 2015 (24)
- Volume 7, 2014 (23)
- Volume 6, 2013 (12)
- Volume 5, 2012 (13)
- Volume 4, 2011 (14)
- Volume 3, 2010 (15)
- Volume 2, 2009 (2)
- Volume 1, 2008 (3)
Journal Articles:
- 320 records -
Genetic Polymorphisms and QF-PCR Performance Evaluation of 20 Autosomal STR Loci on Chromosomes 13, 18, and 21 in Prenatal Diagnosis Among East Chinese Han Population
Liu Y, Xue J, Yan L, Chen C, Zhao S, Li H
The Application of Clinical Genetics 2025, 18:81-91
Published Date: 12 June 2025
Intramuscular Vitamin B12 Treatment in Transcobalamin II Deficiency: Case Series Clinical Outcomes
Sawlan AM, Alotaibi M, Alharbi RM, Alwahbi NA, Alshammary M, Alasmari AM, Al Mutairi F
The Application of Clinical Genetics 2025, 18:73-80
Published Date: 5 June 2025
A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi–Hünermann–Happle Syndrome Presenting with Hydronephrosis
Qiao F, Zeng H, Zhang C, Wang Y, Wang Y, Zhou R, Meng L, Hu P, Xu Z
The Application of Clinical Genetics 2025, 18:63-72
Published Date: 14 May 2025
The Frequency of CYP2C19*2 Gene Polymorphisms in Burkina Faso Patients Treated with Clopidogrel
Kagambèga YD, Ouattara AK, Ouédraogo TWC, Traoré L, Yaméogo NV, Simpore J
The Application of Clinical Genetics 2025, 18:55-61
Published Date: 1 May 2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
Fernández Martínez FJ, Gil Mira MM, González González C, Madrigal Bajo I, Oancea Ionescu R, Orellana Alonso C
The Application of Clinical Genetics 2025, 18:41-53
Published Date: 26 April 2025
Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam
Trieu ST, Pham MD, Le H, Vo HV, Nguyen PV, Tran TV, Nguyen NN, Trinh ST
The Application of Clinical Genetics 2025, 18:29-40
Published Date: 11 April 2025
Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience
Vida B, Török O, Felszeghy E, Orosz M, Krasznai ZT, Tándor Z, Jakab A, Deli T
The Application of Clinical Genetics 2025, 18:9-27
Published Date: 14 February 2025
Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports
Gordon M, Gangemi AJ, Sandwith EL, Kumaran M, Kueppers F
The Application of Clinical Genetics 2025, 18:1-7
Published Date: 28 January 2025
First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene
Alghanem B, Alamri HS, Barhoumi T, Ali Khan I, Almuhalhil K, Aloyouni E, Shaibah H, Mashhour A, Algheribe S, Islam I, Boudjelal M, Alfadhel M
The Application of Clinical Genetics 2024, 17:215-228
Published Date: 31 December 2024
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing
Kałużewski T, Pinkier I, Wysocka U, Sałamunia J, Kępczyński Ł, Piotrowicz M, Kałużewski B, Gach A
The Application of Clinical Genetics 2024, 17:205-214
Published Date: 21 December 2024
Bilateral Wilms Tumor - Case Report of a Patient with Family History
Rdzanek O, Najda P, Parysek-Wójcik K, Pytlik A, Lejman M, Zawitkowska J
The Application of Clinical Genetics 2024, 17:199-203
Published Date: 16 December 2024
Pathway of LCK Tyrosine Kinase and mTOR Signaling in Children with T-Cell Acute Lymphoblastic Leukemia
Rocka A, Suchcicka M, Jankowska AM, Woźniak MM, Lejman M
The Application of Clinical Genetics 2024, 17:187-198
Published Date: 20 November 2024
Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss
Zheng Z, Yan L, Ding L, Zhang Y, Wang M, Yang Y, Wu J, Chen C, Tang M, Li H
The Application of Clinical Genetics 2024, 17:171-186
Published Date: 8 November 2024
Association of RIPK1 and RIPK2 Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Han Population
Lv S, Li Y, Sun B, Jing Y, Wang X, Gu Z, Wang B, Xiao C
The Application of Clinical Genetics 2024, 17:159-169
Published Date: 19 October 2024
Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study
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
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
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
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
A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation
von Korn H, Basso C, Pilichou K, Stefan V, Swojanowsky P
The Application of Clinical Genetics 2023, 16:233-239
Published Date: 21 December 2023
Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population
Maharani RH, Dharmadji HP, Hindritiani R, Achdiat PA, Gunawan H, Dwiyana RF
The Application of Clinical Genetics 2023, 16:225-232
Published Date: 21 December 2023
Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations
Chuansumrit A, Natesirinilkul R, Sirachainan N, Kadegasem P, Surapolchai P, Tangbubpha N, Kempka K, Khlangtan T
The Application of Clinical Genetics 2023, 16:215-223
Published Date: 1 December 2023
Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics
Grandjean B, Scherz A, Rabaglio M
The Application of Clinical Genetics 2023, 16:205-213
Published Date: 9 November 2023
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview
Tadros HJ, Miyake CY, Kearney DL, Kim JJ, Denfield SW
The Application of Clinical Genetics 2023, 16:181-203
Published Date: 1 November 2023
Copy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia
Mekuria AN, Seyoum T, Alemayehu DH, Abebe M, Nedi T, Abula T, Gong YY, Engidawork E
The Application of Clinical Genetics 2023, 16:171-179
Published Date: 20 October 2023
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
Rojananuangnit K, Rojnueangnit K
The Application of Clinical Genetics 2023, 16:165-170
Published Date: 29 August 2023
Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients
The Trinh S, Nguyen NN, Thi Thu Le H, Thi My Pham H, Tien Trieu S, Tran NTM, Sy Ho H, Van Tran D, Van Trinh T, Trong Hoang Nguyen H, Pham Minh N, Duc Dang T, Huu Dinh V, Thi Doan H
The Application of Clinical Genetics 2023, 16:155-164
Published Date: 28 August 2023
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
Kyriakidis F, Kogias D, Venou TM, Karlafti E, Paramythiotis D
The Application of Clinical Genetics 2023, 16:139-153
Published Date: 14 August 2023
Evaluating the Frequencies of CNOT3, GRIA1, NFATC2, and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia
Ali AM, Adam H, Hailu D, Howe R, Abula T, Coenen MJH
The Application of Clinical Genetics 2023, 16:131-137
Published Date: 2 August 2023
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?
Ail D, Malki H, Zin EA, Dalkara D
The Application of Clinical Genetics 2023, 16:111-130
Published Date: 30 May 2023
Profile of BRAFV600E, BRAFK601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital
Harahap AS, Subekti I, Panigoro SS, Asmarinah, Lisnawati, Werdhani RA, Agustina H, Khoirunnisa D, Mutmainnah M, Salinah, Siswoyo AD, Ham MF
The Application of Clinical Genetics 2023, 16:99-110
Published Date: 25 May 2023
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Diderich KEM, Klapwijk JE, van der Schoot V, Brüggenwirth HT, Joosten M, Srebniak MI
The Application of Clinical Genetics 2023, 16:89-97
Published Date: 15 May 2023
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report
Scherz A, Stoll S, Rothlisberger B, Rabaglio M
The Application of Clinical Genetics 2023, 16:83-87
Published Date: 11 May 2023
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E
The Application of Clinical Genetics 2023, 16:63-81
Published Date: 24 April 2023
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
Rodriguez-Rojas LX, Candelo E, Pachajoa H, Garcia-Robledo JE, Nastasi-Catanese JA, Olave-Rodriguez JA, Zambrano AR
The Application of Clinical Genetics 2023, 16:53-62
Published Date: 18 April 2023
Prader-Willi and Angelman Syndromes: Mechanisms and Management
Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP
The Application of Clinical Genetics 2023, 16:41-52
Published Date: 6 April 2023
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives
Senftleber NK, Ramne S, Moltke I, Jørgensen ME, Albrechtsen A, Hansen T, Andersen MK
The Application of Clinical Genetics 2023, 16:31-39
Published Date: 23 March 2023
Genetic Links to Episodic Movement Disorders: Current Insights
Garg D, Mohammad S, Shukla A, Sharma S
The Application of Clinical Genetics 2023, 16:11-30
Published Date: 1 March 2023