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2. RICTOR variants are associated with neurodevelopmental disorders

6. Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy

7. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

8. Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

13. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

18. Patterns of oral anticoagulant use and outcomes in Asian patients with atrial fibrillation: a post-hoc analysis from the GLORIA-AF Registry

21. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

22. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

23. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

26. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

27. Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

28. Clinical spectrum of STX1B-related epileptic disorders.

32. National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

33. Bilateral Perisylvian Polymicrogyria, Intellectual Disability and Nephronophthisis Associated With Compound Heterozygous Pathogenic Variants in the CEP83 Gene.

34. Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

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

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

40. Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

41. A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

43. Personalized clinical management of patients with atrial fibrillation: is a biomarker-based strategy for prediction of sinus rhythm persistence ready for prime time?

44. Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies

45. Clinical and molecular characterization of patients with YWHAG-related epilepsy

46. Developmental epileptic encephalopathy in DLG4-related synaptopathy

47. Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

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

50. Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies

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