EDITORIAL
Published on 06 Sep 2022
Editorial: Improving medical diagnosis in rare diseases
doi 10.3389/fgene.2022.974129
- 1,301 views
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Improving Medical Diagnosis in Rare Diseases
Improving Medical Diagnosis in Rare Diseases
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Articles
ORIGINAL RESEARCH
Published on 11 Aug 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
doi 10.3389/fgene.2022.875182
- 2,441 views
- 10 citations
ORIGINAL RESEARCH
Published on 02 Mar 2022
Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children
doi 10.3389/fgene.2022.785570
- 3,054 views
- 5 citations
ORIGINAL RESEARCH
Published on 25 Feb 2022
Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant
doi 10.3389/fgene.2022.796759
- 1,756 views
- 1 citation
CASE REPORT
Published on 04 Feb 2022
Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report
doi 10.3389/fgene.2021.752272
- 2,207 views
- 4 citations
CASE REPORT
Published on 03 Feb 2022
Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies
doi 10.3389/fgene.2021.780363
- 1,197 views
- 3 citations
CASE REPORT
Published on 31 Jan 2022
Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report
doi 10.3389/fped.2021.790075
- 3,119 views
- 2 citations
REVIEW
Published on 26 Jan 2022
Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment
doi 10.3389/fgene.2021.776807
- 3,217 views
- 8 citations
ORIGINAL RESEARCH
Published on 25 Jan 2022
Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients
doi 10.3389/fgene.2022.768000
- 2,743 views
- 4 citations
ORIGINAL RESEARCH
Published on 18 Jan 2022
A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family
doi 10.3389/fgene.2021.783455
- 2,500 views
- 8 citations
ORIGINAL RESEARCH
Published on 17 Dec 2021
X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions
doi 10.3389/fgene.2021.782629
- 3,897 views
- 7 citations
BRIEF RESEARCH REPORT
Published on 26 Nov 2021
Novel Partial Exon 51 Deletion in the Duchenne Muscular Dystrophy Gene Identified via Whole Exome Sequencing and Long-Read Whole-Genome Sequencing
doi 10.3389/fgene.2021.762987
- 2,925 views
- 5 citations
Published in
Frontiers in Genetics
- Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
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