Original Research
Published on 05 Jun 2024
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1266210
- 1,356 views
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1,649 articles
Original Research
Published on 05 Jun 2024
A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1397410
- 1,995 views
- 1 citation
Original Research
Published on 04 Jun 2024
Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1416047
- 1,204 views
Case Report
Published on 31 May 2024
Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1367716
- 1,670 views
Original Research
Published on 30 May 2024
Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1409459
- 2,017 views
Original Research
Published on 28 May 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1395988
- 2,550 views
Original Research
Published on 27 May 2024
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1400295
- 1,527 views
- 1 citation
Original Research
Published on 27 May 2024
Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1405437
- 1,338 views
Original Research
Published on 23 May 2024
Mechanistic study of pre-eclampsia and macrophage-associated molecular networks: bioinformatics insights from multiple datasets
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1376971
- 2,905 views
Original Research
Published on 22 May 2024
Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1353674
- 2,318 views
Original Research
Published on 21 May 2024
Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1392527
- 2,553 views
- 1 citation
Original Research
Published on 20 May 2024
Keratin 19 (Krt19) is a novel marker gene for epicardial cells
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1385867
- 2,343 views
Case Report
Published on 17 May 2024
Case report: Clinical, imaging, and genetic characteristics of type B niemann pick disease combined with segawa syndrome diagnosed via dual gene sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1391936
- 1,377 views
- 2 citations
Case Report
Published on 17 May 2024
Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1387649
- 1,694 views
Original Research
Published on 16 May 2024
The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1330525
- 1,172 views
Original Research
Published on 16 May 2024
Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1351710
- 2,215 views
- 1 citation