Full Text Available
Note: Clicking the button above will open the full text document at the original institutional repository in a new window.
Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder
Saved in:
| Published in: | Application of Clinical Genetics |
|---|---|
| Format: | Online Article RSS Article |
| Published: |
2026
|
| Subjects: | |
| Tags: |
No Tags, Be the first to tag this record!
|
| _version_ | 1868552840951103488 |
|---|---|
| collection | WordPress RSS FRELIP Feed Integration |
| container_title | Application of Clinical Genetics |
| description | |
| discipline_display | Medical Geneticsx |
| discipline_facet | Medical Geneticsx |
| format | Online Article RSS Article |
| genre | Journal Article |
| id | rss_article:62473 |
| institution | FRELIP |
| journal_source_facet | Application of Clinical Genetics |
| last_indexed | 2026-06-20T21:27:21.959Z |
| publishDate | 2026 |
| publishDateSort | 2026 |
| record_format | rss_article |
| spellingShingle | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder Medical Geneticsx General Medical Geneticsx |
| sub_discipline_display | General |
| sub_discipline_facet | General |
| subject_display | Medical Geneticsx General Medical Geneticsx |
| subject_facet | Medical Geneticsx General Medical Geneticsx |
| title | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_alt | Dos Presentaciones Clínicas Distintas de Discinesia Ciliar Primaria (PCD): Utilidad Diagnóstica de la Secuenciación del Exoma Completo en un Trastorno Genéticamente Heterogéneo Deux présentations cliniques distinctes de la dyskinésie ciliaire primitive (DCP) : utilité diagnostique du séquençage de l'exome entier dans un trouble génétiquement hétérogène Duas Apresentações Clínicas Distintas de Discinesia Ciliar Primária (PCD): Utilidade Diagnóstica do Sequenciamento do Exoma Completo em um Distúrbio Geneticamente Heterogêneo |
| title_auth | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_es_txt | Dos Presentaciones Clínicas Distintas de Discinesia Ciliar Primaria (PCD): Utilidad Diagnóstica de la Secuenciación del Exoma Completo en un Trastorno Genéticamente Heterogéneo |
| title_fr_txt | Deux présentations cliniques distinctes de la dyskinésie ciliaire primitive (DCP) : utilité diagnostique du séquençage de l'exome entier dans un trouble génétiquement hétérogène |
| title_full | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_fullStr | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_full_unstemmed | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_pt_txt | Duas Apresentações Clínicas Distintas de Discinesia Ciliar Primária (PCD): Utilidade Diagnóstica do Sequenciamento do Exoma Completo em um Distúrbio Geneticamente Heterogêneo |
| title_short | Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder |
| title_sort | two distinct clinical presentations of primary ciliary dyskinesia (pcd): diagnostic utility of whole-exome sequencing in a genetically heterogeneous disorder |
| topic | Medical Geneticsx General Medical Geneticsx |
| url | https://www.dovepress.com/two-distinct-clinical-presentations-of-primary-ciliary-dyskinesia-pcd--peer-reviewed-fulltext-article-TACG |