EDITORIAL
Published on 12 Nov 2022
Editorial: NGS technologies of rare diseases diagnosis
doi 10.3389/fped.2022.1032359
- 1,166 views
- 1 citation
- Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
- Research Topics
- NGS Technologies of Rare Diseases Diagnosis
NGS Technologies of Rare Diseases Diagnosis
25k
Total downloads
95k
Total views and downloads
Articles
ORIGINAL RESEARCH
Published on 19 Jul 2022
Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities
doi 10.3389/fgene.2022.836853
- 1,802 views
- 6 citations
ORIGINAL RESEARCH
Published on 01 Jul 2022
Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies
doi 10.3389/fgene.2022.808181
- 2,514 views
- 3 citations
ORIGINAL RESEARCH
Published on 06 Jun 2022
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations
doi 10.3389/fgene.2022.824445
- 2,069 views
- 2 citations
CASE REPORT
Published on 29 Apr 2022
Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus
doi 10.3389/fgene.2022.810853
- 1,904 views
- 1 citation
CASE REPORT
Published on 13 Apr 2022
Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation
doi 10.3389/fgene.2022.718853
- 2,544 views
- 2 citations
CASE REPORT
Published on 08 Apr 2022
A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report
doi 10.3389/fgene.2022.836431
- 1,745 views
- 4 citations
CASE REPORT
Published on 29 Mar 2022
Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
doi 10.3389/fgene.2022.839212
- 1,523 views
CASE REPORT
Published on 17 Mar 2022
Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia
doi 10.3389/fgene.2022.807822
- 1,572 views
- 2 citations
CASE REPORT
Published on 10 Mar 2022
Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene
doi 10.3389/fped.2022.792574
- 2,352 views
- 2 citations
CASE REPORT
Published on 03 Mar 2022
Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency
doi 10.3389/fgene.2022.831133
- 2,221 views
- 4 citations
CASE REPORT
Published on 22 Feb 2022
Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
doi 10.3389/fgene.2022.743472
- 2,817 views
- 9 citations
Published in
Frontiers in Pediatrics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 5.5 citescore