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849 results on '"Geneviève David"'

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1. How patient-reported outcomes and experience measures (PROMs and PREMs) are implemented in healthcare professional and patient organizations? An environmental scan

2. Scaling Up Citizen Workshops in Public Libraries to Disseminate and Discuss Primary Care Research Results: Quasi-Experimental Study

3. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

4. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

5. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

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

7. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

8. RNA variant assessment using transactivation and transdifferentiation

9. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

10. Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

12. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

13. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

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

16. Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

17. Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

19. Caractéristiques génétiques: de la prescription au rendu des résultats et rôle des conseillers en génétique.

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 CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

21. DNA methylation episignature in Gabriele-de Vries syndrome

22. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

24. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

25. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

26. Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study

27. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

29. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients.

31. Expanding the genetic and clinical spectrum of Tatton- Brown- Rahman syndrome in a series of 24 French patients.

32. Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

33. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

34. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

35. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

36. Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients

37. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

38. Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

39. Growth charts in DYRK1A syndrome

40. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

42. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

43. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

45. Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

46. Anatomical and functional abnormalities on MRI in kabuki syndrome

47. Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases

48. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

49. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

50. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

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