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1. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

3. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

4. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

5. Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

6. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

7. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

8. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

9. Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

10. De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children

12. Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

13. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

14. Clinical spectrum of STX1B-related epileptic disorders.

17. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

19. Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

22. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies

23. Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy

24. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

25. Defining the phenotypic spectrum of SLC6A1 mutations

26. Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

29. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients

30. Clinical delineation of SETBP1 haploinsufficiency disorder

31. ARHGEF9 disease

32. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

33. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

35. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

37. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

38. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

39. Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.

40. Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes--ENG and ACVRL1.

41. Clinical and molecular characterization of patients with YWHAG‐related epilepsy.

43. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

46. Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

47. Molecular and Phenotypic Characterization of the RORB-Related Disorder

48. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

49. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

50. GRM7-related disorder: Five additional patients from three independent families and review of the literature

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