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1. Topological and bilipschitz types of complex surface singularities and their links

2. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

4. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

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

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

7. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

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

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

10. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

11. On Lipschitz Normally Embedded singularities

12. Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

13. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

14. RNA variant assessment using transactivation and transdifferentiation

15. Polar exploration of complex surface germs

16. A measles and rubella vaccine microneedle patch in The Gambia: a phase 1/2, double-blind, double-dummy, randomised, active-controlled, age de-escalation trial

17. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

18. An introduction to Lipschitz geometry of complex singularities

19. On Lipschitz Normally Embedded complex surface germs

20. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

21. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

22. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

24. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

25. Intra- and interchromosomal contact mapping reveals the Igh locus has extensive conformational heterogeneity and interacts with B-lineage genes

26. Inner geometry of complex surfaces: a valuative approach

27. PLEKHS1 drives PI3Ks and remodels pathway homeostasis in PTEN-null prostate

28. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

30. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

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

32. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

33. Lipschitz normal embedding among superisolated singularities

34. A characterization of Lipschitz normally embedded surface singularities

35. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

36. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

37. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

38. Expanding MNS1 Heterotaxy Phenotype.

39. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

41. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

42. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

43. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

44. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

45. The GPCR adaptor protein norbin suppresses the neutrophil-mediated immunity of mice to pneumococcal infection

46. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

47. DLG4-related synaptopathy: a new rare brain disorder

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

50. Lipschitz geometry does not determine embedded topological type

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