Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8794

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Whole genome sequencing in the diagnosis of primary ciliary dyskinesia ; volume:14 ; number:1 ; day:23 ; month:9 ; year:2021 ; pages:1-21 ; date:12.2021
BMC medical genomics ; 14, Heft 1 (23.9.2021), 1-21, 12.2021

Creator: Wheway, Gabrielle
Thomas, N. Simon
Carroll, Mary
Coles, Janice
Doherty, Regan
Goggin, Patricia
Green, Ben
Harris, Amanda
Hunt, David
Jackson, Claire L.
Lord, Jenny
Mennella, Vito
Thompson, James
Walker, Woolf T.
Lucas, Jane S.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-021-01084-w

URN: urn:nbn:de:101:1-2021121422573184388929

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:36 AM CEST

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Associated

Wheway, Gabrielle
Thomas, N. Simon
Carroll, Mary
Coles, Janice
Doherty, Regan
Goggin, Patricia
Green, Ben
Harris, Amanda
Hunt, David
Jackson, Claire L.
Lord, Jenny
Mennella, Vito
Thompson, James
Walker, Woolf T.
Lucas, Jane S.
SpringerLink (Online service)

Other Objects (12)

Primary Ciliary Dyskinesia

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Towards gene therapy for primary ciliary dyskinesia

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Hochschulschrift

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects

Primary Ciliary Dyskinesia

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Towards gene therapy for primary ciliary dyskinesia

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Hochschulschrift

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects

Primary Ciliary Dyskinesia

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Towards gene therapy for primary ciliary dyskinesia

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Hochschulschrift

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects

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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

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Other Objects (12)

Primary Ciliary Dyskinesia

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Towards gene therapy for primary ciliary dyskinesia

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects

Primary Ciliary Dyskinesia

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Towards gene therapy for primary ciliary dyskinesia

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects

Primary Ciliary Dyskinesia

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Towards gene therapy for primary ciliary dyskinesia

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Airway ciliary microenvironment responses in mice with primary ciliary dyskinesia and central pair apparatus defects

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