EDITORIAL
Published on 28 Oct 2022
Editorial: Genetics and mechanism of ciliopathies
doi 10.3389/fgene.2022.1067168
- 1,281 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Genetics and Mechanism of Ciliopathies
Genetics and Mechanism of Ciliopathies
12k
Total downloads
41k
Total views and downloads
Submit your idea
You will be redirected to our submission process.
Articles
ORIGINAL RESEARCH
Published on 10 Oct 2022
Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
doi 10.3389/fgene.2022.1017280
- 1,688 views
- 9 citations
BRIEF RESEARCH REPORT
Published on 07 Oct 2022
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease
doi 10.3389/fgene.2022.1021037
- 3,095 views
- 7 citations
ORIGINAL RESEARCH
Published on 30 Sep 2022
CFAP300 mutation causing primary ciliary dyskinesia in Finland
doi 10.3389/fgene.2022.985227
- 2,228 views
- 6 citations
ORIGINAL RESEARCH
Published on 13 Sep 2022
Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations
doi 10.3389/fgene.2022.1009430
- 2,730 views
- 5 citations
ORIGINAL RESEARCH
Published on 19 Aug 2022
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
doi 10.3389/fgene.2022.982127
- 1,802 views
- 2 citations
ORIGINAL RESEARCH
Published on 08 Aug 2022
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis
doi 10.3389/fgene.2022.933381
- 2,159 views
- 4 citations
CASE REPORT
Published on 12 Jul 2022
Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families
doi 10.3389/fgene.2022.934920
- 2,257 views
- 6 citations
ORIGINAL RESEARCH
Published on 07 Jul 2022
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis
doi 10.3389/fgene.2022.931822
- 2,260 views
- 4 citations
ORIGINAL RESEARCH
Published on 06 Jul 2022
Strongly Truncated Dnaaf4 Plays a Conserved Role in Drosophila Ciliary Dynein Assembly as Part of an R2TP-Like Co-Chaperone Complex With Dnaaf6
doi 10.3389/fgene.2022.943197
- 1,720 views
- 4 citations
REVIEW
Published on 30 Jun 2022
Insights Gained From Zebrafish Models for the Ciliopathy Joubert Syndrome
doi 10.3389/fgene.2022.939527
- 3,434 views
- 9 citations
ORIGINAL RESEARCH
Published on 22 Jun 2022
Novel RSPH4A Variants Associated With Primary Ciliary Dyskinesia–Related Infertility in Three Chinese Families
doi 10.3389/fgene.2022.922287
- 2,271 views
- 7 citations
Published in
Frontiers in Genetics
- Human and Medical Genomics
Impact
- 41kTopic views
- 27kArticle views
- 12kArticle downloads