Original Research
Published on 05 Sep 2024
Development and clinical validation of a novel detection kit for α-thalassemia in southern Chinese
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1457248
- 151 views
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1,722 articles
Articles
Case Report
Published on 04 Sep 2024
Case report: A novel TLK2 variant with a neuropsychiatric phenotype from a Chinese family
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1419027
- 135 views
Brief Research Report
Accepted on 03 Sep 2024
Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1437566
Case Report
Published on 02 Sep 2024
Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1382275
- 216 views
Case Report
Accepted on 30 Aug 2024
A case of adrenomyeloneuropathy caused by a novel point mutation in the ABCD1 gene and functional verification
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1421122
Correction
Published on 30 Aug 2024
Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1477788
- 132 views
Original Research
Published on 30 Aug 2024
Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1421943
- 244 views
Original Research
Accepted on 29 Aug 2024
Association Study Reveals a Susceptibility Locus with Male Pattern Baldness in the Han Chinese Population
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1438375
- 169 views
Case Report
Accepted on 28 Aug 2024
Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1249480
Case Report
Accepted on 28 Aug 2024
Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1422469
Brief Research Report
Accepted on 28 Aug 2024
Whole-genome sequencing reveals rare variants associated with gout in Taiwanese males
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1423714
Original Research
Accepted on 28 Aug 2024
A Combined Transcriptomics and Proteomics Approach Reveals S100A4 as Potential Biomarker for Graves' Orbitopathy
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1342205
Brief Research Report
Accepted on 28 Aug 2024
De novo and inherited micro-CNV at 16p13.11 in 21 Chinese Patients with Defective Cardiac Left-right Patterning
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1458953
Review
Accepted on 28 Aug 2024
Genetic aetiology of Autism Spectrum Disorder in the African population: A Scoping review
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1431093
Case Report
Accepted on 28 Aug 2024
Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency of newborn
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1464556
Original Research
Accepted on 28 Aug 2024
TFE3 and TP53 were novel diagnostic biomarkers related to mitochondrial autophagy in chronic rhinosinusitis with nasal polyps
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1423778