Population specificity of the DNAI1gene mutation spectrum in primary ciliary dyskinesia (PCD)

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1465-993X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Population specificity of the DNAI1gene mutation spectrum in primary ciliary dyskinesia (PCD) ; volume:11 ; number:1 ; day:8 ; month:12 ; year:2010 ; pages:1-11 ; date:12.2010
Respiratory research ; 11, Heft 1 (8.12.2010), 1-11, 12.2010

Creator: Ziętkiewicz, Ewa

Contributor: Nitka, Barbara
Voelkel, Katarzyna
Skrzypczak, Urszula
Bukowy, Zuzanna
Rutkiewicz, Ewa
Humińska, Kinga
Przystałowska, Hanna
Pogorzelski, Andrzej
Witt, Michał
SpringerLink (Online service)

DOI: 10.1186/1465-9921-11-174

URN: urn:nbn:de:1111-2016060311499

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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Associated

Ziętkiewicz, Ewa
Nitka, Barbara
Voelkel, Katarzyna
Skrzypczak, Urszula
Bukowy, Zuzanna
Rutkiewicz, Ewa
Humińska, Kinga
Przystałowska, Hanna
Pogorzelski, Andrzej
Witt, Michał
SpringerLink (Online service)

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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

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

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Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Towards gene therapy for primary ciliary dyskinesia

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

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Hochschulschrift

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

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Primary Ciliary Dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Towards gene therapy for primary ciliary dyskinesia

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

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Hochschulschrift

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

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

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Population specificity of the DNAI1gene mutation spectrum in primary ciliary dyskinesia (PCD)

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Other Objects (12)

Primary Ciliary Dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

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

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

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

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Primary Ciliary Dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

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

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

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

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

Primary Ciliary Dyskinesia

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

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

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review

Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

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

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

Variation in DNAH1 may contribute to primary ciliary dyskinesia

Hypovitaminosis D: a novel finding in primary ciliary dyskinesia

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