ORIGINAL RESEARCH
Published on 02 Oct 2024
Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing
doi 10.3389/fgene.2024.1399186
- 1,472 views
- 1 citation
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Rare Diseases Research and Diagnosis in Low- and Middle-Income Countries
Rare Diseases Research and Diagnosis in Low- and Middle-Income Countries
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Articles
ORIGINAL RESEARCH
Published on 27 Sep 2024
The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review
doi 10.3389/fped.2024.1410133
- 1,326 views
- 1 citation
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
doi 10.3389/fgene.2024.1415906
- 1,548 views
ORIGINAL RESEARCH
Published on 08 Aug 2024
Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission
doi 10.3389/fgene.2024.1389461
- 965 views
ORIGINAL RESEARCH
Published on 22 Jul 2024
Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review
doi 10.3389/fgene.2024.1402531
- 1,780 views
ORIGINAL RESEARCH
Published on 10 Jul 2024
Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I
doi 10.3389/fgene.2024.1308737
- 1,280 views
ORIGINAL RESEARCH
Published on 04 Jul 2024
Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
doi 10.3389/fped.2024.1412880
- 2,559 views
- 1 citation
ORIGINAL RESEARCH
Published on 16 May 2024
A novel homozygous RSPH4A variant in a family with primary ciliary dyskinesia and literature review
doi 10.3389/fgene.2024.1364476
- 1,557 views
CASE REPORT
Published on 25 Apr 2024
Case Report: A novel RRM2B variant in a Chinese infant with mitochondrial DNA depletion syndrome and collective analyses of RRM2B variants for disease etiology
doi 10.3389/fped.2024.1363728
- 1,160 views
- 1 citation
ORIGINAL RESEARCH
Published on 22 Apr 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
doi 10.3389/fgene.2024.1384094
- 1,810 views
ORIGINAL RESEARCH
Published on 18 Apr 2024
Endoplasmic reticulum stress-related gene expression causes the progression of dilated cardiomyopathy by inducing apoptosis
doi 10.3389/fgene.2024.1366087
- 1,572 views
- 1 citation
ORIGINAL RESEARCH
Published on 26 Mar 2024
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype
doi 10.3389/fgene.2024.1331278
- 2,270 views
- 1 citation
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.0 impact factor
- 4.3 citescore