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5 articles related to "Familial Screening"

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Articles

Brief Research Report

Published on 06 Sep 2021

Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation

in Human and Medical Genomics

Anna G. Shestak
Leonid M. Makarov
Vera N. Komoliatova
Irina V. Kolesnikova
Liubov O. Skorodumova
Edward V. Generozov
Elena V. Zaklyazminskaya

Frontiers in Genetics

doi 10.3389/fgene.2021.722291

3,020 views
1 citation

Case Report

Published on 30 Mar 2021

Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

in Genetics of Common and Rare Diseases

Joonhong Park
Yong Gon Cho
Ha Wook Park
Jung Sun Cho

Frontiers in Pediatrics

doi 10.3389/fped.2021.609389

5,661 views
12 citations

Original Research

Published on 13 Jan 2026

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment

in Hepatobiliary Diseases

Ekaterina Nuzhnaya
Elena Zaklyazminskaya
Viktoriia Zabnenkova
Darya Akimova
Evgeny Tatarsky
Lana Dzik
Andrey Surkov
Natalia Zhurkova
Andrey Filin
Aleksej Metelin

Frontiers in Medicine

doi 10.3389/fmed.2025.1680857

755 views

Brief Research Report

Published on 11 Jun 2025

Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site

in Human and Medical Genomics

Anna G. Shestak
Victoria A. Rumyantseva
Elena V. Zaklyazminskaya

Frontiers in Genetics

doi 10.3389/fgene.2025.1571437

2,541 views
1 citation

Case Report

Published on 20 Jun 2022

Case Report: A Chinese Family of Hypertrophic Cardiomyopathy Caused by a Novel Splicing Mutation in the FLNC Gene

in Genetics of Common and Rare Diseases

Chunhui Huang
Yonghong Zheng
Wei Zhang
Zhigang Chen
Zhixin Huang
Yuan Fang

Frontiers in Genetics

doi 10.3389/fgene.2022.894791

5,545 views
6 citations