Hochschulschrift
Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9, [...]. [Band]
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Dimensions
-
30 cm
- Extent
-
VIII, 138 Seiten
- Language
-
Englisch
- Notes
-
Illustrationen
- Bibliographic citation
-
Molecular characterization of dynein arm defects in primary ciliary dyskinesia individuals with mutations in C11ORF70/CFAP300, PIH1D3 and DNAH9
- Classification
-
Medizin, Gesundheit
- Table of contents
- Rights
-
Bei diesem Objekt liegt nur das Inhaltsverzeichnis digital vor. Der Zugriff darauf ist unbeschränkt möglich.
- Last update
-
11.12.20252024, 12:41 PM CET
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Object type
- Hochschulschrift
Associated
Time of origin
- 2019
Other Objects (12)
Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100
Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia
Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1
Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia
Somatic mutations in primary melanoma tumors
Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium
ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways
Ciliary Neurotrophic Factor
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins
Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100
Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia
Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1
Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia
Somatic mutations in primary melanoma tumors
Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium
ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways
Ciliary Neurotrophic Factor
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
Ciliary and non-ciliary functions of Bardet-Biedl syndrome proteins
Primary ciliary dyskinesia with normal ciliary ultrastructure due to mutations in CCDC37/CFAP100
Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects
Molecular and functional characterization of male infertility causing mutations linked to primary ciliary dyskinesia
Identification and molecular characterization of ciliary defects caused by mutations in SPEF2, HYDIN, STK36 and MNS1
Molecular characterization of the composition and defects of the radial spoke complex in primary ciliary dyskinesia
Somatic mutations in primary melanoma tumors
Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium
ZMYND10, ARMC4 and CCDC151 deficiencies in the ciliary axobeme cause primary cili primary ciliary dyskinesia by disruption of the outer dynein arm assembly through two different pathways
Ciliary Neurotrophic Factor
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction