EDITORIAL
Published on 12 Nov 2022
Editorial: NGS technologies of rare diseases diagnosis
doi 10.3389/fped.2022.1032359
- 1,128 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
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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
- 1,721 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
- 2,370 views
- 2 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
- 1,935 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
- 1,799 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
- 2,386 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
- 1,641 views
- 3 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
- 1,456 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
- 1,484 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
- 2,189 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
- 2,102 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
- 2,637 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
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- 90kTopic views
- 65kArticle views
- 23kArticle downloads