181 results on '"Mcneill, Alisdair"'
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2. Unusual genomic variants require unusual analyses
3. ENROLL-HD for MND?
4. Molecular explanations for variability of clinical phenotypes
5. April, again
6. Genes=disease (?)
7. The value of exomes across the ages
8. New year, new genes
9. The utility of population level genomic research
10. Genome sequencing—do you know what you are getting into?
11. Variability of Multiple Sclerosis Walking Scale and Multiple Sclerosis Impact Scale Scores in People Without Multiple Sclerosis
12. Happy 30th birthday to the European Journal of Human Genetics!
13. Guidelines, guidelines everywhere—and still I’m not sure what to do
14. Clinical genomics testing: mainstreaming and globalising
15. What’s new in genetics in June 2022?
16. Predictive genetic testing for Motor neuron disease: time for a guideline?
17. No gene to predict the future?
18. Exome sequencing—one test to rule them all?
19. No April fools in clinical genomics
20. A new system for variant classification?
21. Correction: 2021 at European Journal of Human Genetics: the year in review
22. New year, new issue
23. 2021 at European Journal of Human Genetics: the year in review
24. Genomics elucidates both common and rare disease aetiology
25. Genotyping arrays, population genetic studies and clinical implications
26. Good genotype-phenotype relationships in rare disease are hard to find
27. Comment on: Bi-allelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2
28. Fond farewell to clinical utility gene cards
29. Diagnosis of Neurogenetic Disorders : Contribution of Next Generation Sequencing and Deep Phenotyping
30. Clinical genomics—but faster
31. What’s new in EJHG in April
32. A new impact factor for European Journal of Human Genetics
33. Clinical genetics—it’s polygenic
34. Out now in May’s EJHG
35. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
36. The Effectiveness of Physiotherapy Interventions for Mobility in Severe Multiple Sclerosis: A Systematic Review and Meta-Analysis
37. How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
38. Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
39. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
40. New year, new issue
41. Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
42. Lysosomal dysfunction in Parkinson’s disease
43. Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease
44. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
45. A Molecular Analysis Of Prion Protein Expression In Alzheimer's Disease
46. Ursodeoxycholic acid as a novel disease-modifying treatment for Parkinson’s disease: protocol for a two-centre, randomised, double-blind, placebo-controlled trial, The 'UP' study
47. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinsonʼs disease
48. SOX11variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
49. SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect
50. From the Editorial Team
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