Editorial
Published on 20 Jun 2024
Editorial: Inborn errors of carbohydrate metabolism
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1430414
- 1,680 views
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1,833 articles
Original Research
Published on 20 Jun 2024
ZP1-Y262C mutation causes abnormal zona pellucida formation and female infertility in humans
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1407202
- 1,282 views
- 1 citation
Original Research
Published on 17 Jun 2024
Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1375736
- 1,720 views
Original Research
Published on 17 Jun 2024
A novel insertional allele of the CG18135 gene is associated with severe mutant phenotypes in Drosophila melanogaster
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1355368
- 1,146 views
- 1 citation
Original Research
Published on 12 Jun 2024
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1364441
- 1,313 views
Original Research
Published on 11 Jun 2024
Revealing the genetic complexity of hypothyroidism: integrating complementary association methods
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1409226
- 2,648 views
- 4 citations
Original Research
Published on 10 Jun 2024
Identification of oxidative phosphorylation-related genes in moyamoya disease by combining bulk RNA-sequencing analysis and machine learning
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1417329
- 2,092 views
Review
Published on 10 Jun 2024
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1387598
- 3,460 views
- 4 citations
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
- 1,200 views
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
- 1,721 views
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
- 1,083 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
- 1,404 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
- 1,813 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
- 2,134 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
- 1,327 views
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
- 1,128 views