Case Report
Published on 12 Sep 2024
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1464556
- 735 views
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1,758 articles
Articles
Case Report
Published on 11 Sep 2024
Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1432272
- 735 views
Case Report
Published on 09 Sep 2024
Case report: 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
- 641 views
Brief Research Report
Published on 09 Sep 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
- 670 views
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
- 636 views
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
- 581 views
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
- 716 views
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
- 547 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
- 919 views
Original Research
Published on 20 Aug 2024
Identification of biallelic mutations in MCM3AP and comprehensive literature analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1405644
- 574 views
Systematic Review
Published on 20 Aug 2024
Association between vitamin D receptor gene polymorphisms and susceptibility to tuberculosis: a systematic review and meta-analysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1382957
- 840 views
- 1 citation
Original Research
Published on 20 Aug 2024
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1437959
- 916 views
Case Report
Published on 16 Aug 2024
HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1391804
- 703 views
Case Report
Published on 16 Aug 2024
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1429185
- 1,290 views
Original Research
Published on 16 Aug 2024
Novel WFS1 variants are associated with different diabetes phenotypes
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1433060
- 1,069 views
Case Report
Published on 14 Aug 2024
Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2024.1415906
- 1,058 views