33 results on '"Hjeij, Rim"'
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2. Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis
3. Use of Immunofluorescence Staining in Primary Ciliary Dyskinesia Diagnosis
4. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
5. Caffeine Citrate Increases Ciliary Beat Frequency in Human Respiratory Epithelial Cells
6. Pathogenic variants in CLXN encoding the Outer Dynein Arm Docking associated calcium-binding protein calaxin cause primary ciliary dyskinesia
7. Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
8. Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure
9. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
10. Defects in outer dynein arm docking machinery cause primary ciliary dyskinesia
11. Diagnosis of Primary Ciliary Dyskinesia: a multi-center experience
12. Mutations in CCDC11, which Encodes a Coiled-Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer
13. Biallelic DAW1variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities
14. SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair–associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics
15. Immunofluorescense staining results in respiratory epithelial cells of patients with suspected PCD from Marmara University
16. CiliaCarta: An integrated and validated compendium of ciliary genes
17. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
18. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
19. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
20. Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects
21. CiliaCarta: an integrated and validated compendium of ciliary genes
22. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
23. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes
24. Identification of distinct ciliary beat pattern abnormalities by high-speed video microscopy in primary ciliary dyskinesia
25. Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects
26. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
27. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
28. Pathogenic variants in CLXNencoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia
29. Immuno fluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
30. Randomization of Left-Right Asymmetry and Congenital Heart Defects
31. CiliaCarta: An integrated and validated compendium of ciliary genes
32. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
33. Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
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