Original Research
Published on 12 Feb 2024
Spectrum of genetic variants in bilateral sensorineural hearing loss
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1314535
- 2,335 views
- 2 citations
Type at least 3 characters
1,758 articles
Articles
Case Report
Published on 09 Feb 2024
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1344051
- 2,080 views
Original Research
Published on 06 Feb 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
- 1,280 views
Case Report
Published on 31 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
- 2,133 views
- 1 citation
Original Research
Published on 29 Jan 2024
Evaluation of genetic variants related to lipid levels among the North Indian population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1234693
- 1,505 views
Original Research
Published on 29 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
- 1,929 views
Original Research
Published on 29 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
- 1,261 views
Original Research
Published on 29 Jan 2024
Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1274743
- 1,753 views
- 1 citation
Original Research
Published on 24 Jan 2024
Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1293929
- 3,196 views
Original Research
Published on 22 Jan 2024
The value of genome-wide analysis in craniosynostosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2023.1322462
- 3,133 views
- 2 citations
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
- 4,848 views
- 2 citations
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
- 1,343 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
- 2,599 views
- 2 citations
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
- 2,135 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
- 1,944 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
- 4,358 views
- 8 citations