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101 results on '"Combi, R"'

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1. Epigenetics in Alzheimer’s Disease: A Critical Overview

2. Restless Leg Syndrome Through the Magnifying Glass of Genetics

3. Can SARS-CoV-2 Infection Exacerbate Alzheimer’s Disease? An Overview of Shared Risk Factors and Pathogenetic Mechanisms

4. Exome Sequencing in an ADSHE Family: VUS Identification and Limits

6. Patient-Derived Induced Pluripotent Stem Cells (iPSCs) and Cerebral Organoids for Drug Screening and Development in Autism Spectrum Disorder: Opportunities and Challenges

7. Potassium channels in the neuronal homeostasis and neurodegenerative pathways underlying Alzheimer's disease: An update

8. Analysis of human papillomavirus (HPV) 16 variants associated with cervical infection in Italian women

9. Long Non-Coding RNAs and Related Molecular Pathways in the Pathogenesis of Epilepsy

11. Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing

12. Sleep disorder-related headaches

13. A novel KCNJ2 mutation identified in an autistic proband affects the single channel properties of Kir2.1

14. A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy

16. Identification of two mutations in cis in the SCN1A gene in a family showing genetic epilepsy with febrile seizures plus (GEFS+) and idiopathic generalized epilepsy (IGE)

17. Simultaneous overexpression of human E5NT and ENTPD1 protects porcine endothelial cells against H2O2-induced oxidative stress and cytotoxicity in vitro

19. Potassium channels and human epileptic phenotypes: An updated overview

21. Evidence for a fourth locus for ADNFLE

24. Identification and functional characterisation of a new KCNJ2 mutation

25. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

26. Nocturnal Frontal Lobe Epilepsy

27. Functional Characterization of a CRH Missense Mutation Identified in an ADNFLE Family

29. Ricerca di mutazioni in una famiglia ADNFLE.

30. Nocturnal frontal lobe epilepsy and the acetylcholine receptor.

32. Ricerca di mutazioni in pazienti affetti da NFLE

34. aCGH analysis of two families showing both autism and epilepsy

37. Clinical and genetic evaluation of a family showing both autism and epilepsy

38. Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome

39. Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy

40. A rescuable folding defective Nav1.1 (SCN1A) Na+channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

41. Distinct pools of cancer stem-like cells coexist within human glioblastomas and display different tumorigenicity and independent genomic evolution

42. CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients

44. Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russel syndrome

46. Gene Symbol: SCN1A

48. Clinical and genetic familial study of 61 children showing different epileptic phenotypes.

49. Maternal polymorphisms for methyltetrahydrofolate reductase (MTHFR) and methioninesynthetasi-reductase (MTRR) and risk of children with down syndrome: A geographic effect?

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