Original Research
Accepted on 19 Jan 2024
Prevalence of inherited metabolic disorders among newborns in Zhuzhou, a southern city in China
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1197151
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1,596 articles
Articles
Original Research
Published on 19 Jan 2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1309146
- 234 views
Original Research
Accepted on 16 Jan 2024
Deciphering the molecular Classification of pediatric sepsis: Integrating WGCNA and Machine learning-based classification with immune signatures for the development of an advanced diagnostic model
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1294381
Case Report
Accepted on 15 Jan 2024
Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1291063
Case Report
Published on 15 Jan 2024
Case report: The evolving phenotype of ESCO2 spectrum disorder in a 15-year-old Malaysian child
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1286489
- 333 views
Study Protocol
Published on 12 Jan 2024
Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1278750
- 574 views
Original Research
Published on 12 Jan 2024
Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1308116
- 704 views
Original Research
Published on 12 Jan 2024
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1259826
- 336 views
Original Research
Published on 11 Jan 2024
Genetics and clinical phenotypes in common variable immunodeficiency
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1272912
- 501 views
Original Research
Published on 11 Jan 2024
Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1275633
- 407 views
Original Research
Published on 11 Jan 2024
Hereditary deafness carrier screening in 9,993 Chinese individuals
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1327258
- 363 views
Original Research
Published on 11 Jan 2024
Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1292073
- 634 views
Case Report
Published on 11 Jan 2024
Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1286515
- 343 views
Original Research
Accepted on 10 Jan 2024
A novel CTBP1 variant in a Chinese pediatric patient with a phenotype distinct from Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1344682
Review
Published on 10 Jan 2024
The burden of cystic fibrosis in North Africa
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1295008
- 505 views
Editorial
Published on 08 Jan 2024
Editorial: Genetics of inflammatory and immune diseases
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1355794
- 225 views