16 results on '"Bracht D"'
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2. Autosomal recessive mutations in TP73 cause a mucociliary clearance disorder and lissencphaly
3. CFAP74-mutations as cause of Primary Ciliary Dyskinesia (PCD): Clinical presentation and diagnostic challenges
4. Mutationen in CFAP74 als Ursache für Primäre Ciliäre Dyskinesie (PCD) mit normaler nasaler NO-Produktionsrate und normaler ciliärer Ultrastruktur
5. Grip-force variability in asymptomatic carriers of the Huntington gene – a biomarker for presymptomatic clinical studies?
6. Tongue force variability in asymptomatic carriers of the Huntington gene – a biomarker for presymptomatic clinical studies?
7. Grip-force variability in asymptomatic carriers of the Huntington gene – a biomarker for presymptomatic clinical studies?
8. Tongue force variability in asymptomatic carriers of the Huntington gene – a biomarker for presymptomatic clinical studies?
9. A range of 30%-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.
10. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
11. Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
12. Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure.
13. Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
14. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
15. Age- and gender-adjusted normative data for the German version of Rey's Auditory Verbal Learning Test from healthy subjects aged between 50 and 70 years.
16. Identification of a novel plasmin(ogen)-binding motif in surface displayed alpha-enolase of Streptococcus pneumoniae.
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