EDITORIAL
Published on 28 Oct 2022
Editorial: Genetics and mechanism of ciliopathies
doi 10.3389/fgene.2022.1067168
- 1,321 views
- Frontiers in Genetics
- Human and Medical Genomics
- Research Topics
- Genetics and Mechanism of Ciliopathies
Genetics and Mechanism of Ciliopathies
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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
- 1,750 views
- 10 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
- 3,186 views
- 9 citations
ORIGINAL RESEARCH
Published on 30 Sep 2022
CFAP300 mutation causing primary ciliary dyskinesia in Finland
doi 10.3389/fgene.2022.985227
- 2,324 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
- 2,819 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
- 1,864 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
- 2,237 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
- 2,336 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
- 2,348 views
- 6 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
- 1,783 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
- 3,555 views
- 11 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
- 2,335 views
- 7 citations
