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The Application of Clinical Genetics

ISSN: 1178-704X


      

Editor-in-Chief: Martin Henrik Maurer

An international, peer-reviewed, open access, online journal that welcomes laboratory and clinical findings in the field of human genetics.

This journal is a member of and subscribes to the principles of the Committee on Publication Ethics (COPE).

Articles:

Latest articles:

- 5 records -

Original Research

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

Perspectives

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

Case report

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

Review

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

Original Research

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


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