Pages that link to "Q24300203"
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The following pages link to Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure (Q24300203):
Displaying 50 items.
- Dynein axonemal heavy chain 11 (Q21114320) (← links)
- Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia (Q24300321) (← links)
- Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms (Q24306561) (← links)
- Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia (Q24306741) (← links)
- DYX1C1 is required for axonemal dynein assembly and ciliary motility (Q24310331) (← links)
- ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 (Q24312017) (← links)
- Genetics and biology of primary ciliary dyskinesia (Q26782119) (← links)
- CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia (Q27308979) (← links)
- Accuracy of diagnostic testing in primary ciliary dyskinesia (Q27321461) (← links)
- LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects (Q27333763) (← links)
- Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review (Q28082500) (← links)
- Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (Q28709034) (← links)
- Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects (Q28975778) (← links)
- Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia (Q30570040) (← links)
- Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure (Q30577804) (← links)
- DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes (Q30797341) (← links)
- Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. (Q30840492) (← links)
- Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities (Q31139059) (← links)
- The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia (Q33640482) (← links)
- The determination factors of left-right asymmetry disorders- a short review (Q33693300) (← links)
- Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies (Q33780616) (← links)
- Recent advances in primary ciliary dyskinesia genetics. (Q34852544) (← links)
- Diagnosis and management of primary ciliary dyskinesia. (Q34991358) (← links)
- Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype (Q35153440) (← links)
- Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population (Q35198914) (← links)
- Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder (Q35210996) (← links)
- Major protein alterations in spermatozoa from infertile men with unilateral varicocele (Q35248437) (← links)
- Mutation analysis in patients with total sperm immotility (Q35816162) (← links)
- Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis (Q35860393) (← links)
- Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy (Q36365258) (← links)
- Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia. (Q36692961) (← links)
- Primary ciliary dyskinesia and associated sensory ciliopathies (Q36968964) (← links)
- Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease (Q37304381) (← links)
- Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms (Q37530115) (← links)
- Picking up speed: advances in the genetics of primary ciliary dyskinesia (Q37624432) (← links)
- Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. (Q37651731) (← links)
- Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype (Q37698245) (← links)
- Primary ciliary dyskinesia, an orphan disease (Q38025037) (← links)
- Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy (Q38066984) (← links)
- Gene mutations in primary ciliary dyskinesia related to otitis media (Q38181444) (← links)
- Primary ciliary dyskinesia: overlooked and undertreated in children. (Q38221413) (← links)
- Genetic basis of human left-right asymmetry disorders (Q38563680) (← links)
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia (Q38796206) (← links)
- A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms (Q38813267) (← links)
- Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia (Q38960402) (← links)
- Cilia and Mucociliary Clearance (Q39013671) (← links)
- Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants (Q40111098) (← links)
- An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families (Q41367733) (← links)
- Defining the mechanisms by which the reactive oxygen species by-product, 4-hydroxynonenal, affects human sperm cell function (Q41447823) (← links)
- Chromothripsis: Basis of a Concurrent Unusual Association between Myelodysplastic Syndrome and Primary Ciliary Dyskinesia. (Q41844449) (← links)