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50 results on '"Rees, Mark"'

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1. A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

2. Epilepsy mortality in Wales during COVID-19

3. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

4. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

5. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

6. The origins of agriculture: Intentions and consequences

7. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

9. Ten-year Mortality, Disease Progression, and Treatment-related Side Effects in Men with Localised Prostate Cancer from the ProtecT Randomised Controlled Trial According to Treatment Received

10. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

11. Development of a cardiac inherited disease service and clinical registry: A 15-year perspective

13. Validating epilepsy diagnoses in routinely collected data

15. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

16. Radiotherapy for Prostate Cancer: is it ‘what you do’ or ‘the way that you do it’? A UK Perspective on Technique and Quality Assurance

17. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

18. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

22. A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

23. De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

25. New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms

26. Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

28. Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

29. A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

40. Long QT and Brugada syndrome gene mutations in New Zealand

41. PICK1 interacts with α7 neuronal nicotinic acetylcholine receptors and controls their clustering

47. Isoform Heterogeneity of the Human Gephyrin Gene (GPHN), Binding Domains to the Glycine Receptor, and Mutation Analysis in Hyperekplexia

48. Molecular investigation of TBP allele length

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