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102 results on '"Beales, PL"'

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1. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

2. Germline selection shapes human mitochondrial DNA diversity

4. Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

5. Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

6. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

7. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

8. Genetic analysis of 'PAX6-negative' individuals with aniridia or Gillespie Syndrome

9. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

10. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

13. Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy

14. SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”

20. COLEC10 is mutated in 3MC patients and regulates early craniofacial development

21. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

22. De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1 .

23. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.

24. Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2 , BBS7, and EVC2 Mutations.

25. Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.

27. Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.

28. Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

29. Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation.

30. CiliaCarta: An integrated and validated compendium of ciliary genes.

31. An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.

32. Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.

33. CD19 + CD24 hi CD38 hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.

34. The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.

35. The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.

36. Managing Bardet-Biedl Syndrome-Now and in the Future.

37. Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

38. Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling.

39. COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

40. Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

41. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

42. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

43. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

45. Non-essential role for cilia in coordinating precise alignment of lens fibres.

46. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

47. Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

48. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

49. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

50. Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.

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