Back to Journals » The Application of Clinical Genetics » Volume 16

The Application of Clinical Genetics

ISSN: 1178-704X


Archive: Volume 16, 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