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The Application of Clinical Genetics
ISSN: 1178-704X
- View all (293)
- Volume 17, 2024 (4)
- 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)
Archive: Volume 16, 2023
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
Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office’s Report
Patryn R, Zagaja A, Drozd M
The Application of Clinical Genetics 2023, 16:1-10
Published Date: 20 January 2023