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1,682 results on '"Boddaert, Nathalie"'

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1. Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

2. Supra-tentorial Ependymomas with ZFTA Fusion, YAP1 Fusion, and Astroblastomas, MN1-altered: Characteristic Imaging Features

5. GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

7. CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas

9. CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions

11. Imaging features to distinguish posterior fossa ependymoma subgroups

12. A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation

14. PLAG1 fusions extend the spectrum of PLAG(L)-altered CNS tumors

16. JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

17. Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings

18. De novo variants in DENND5B cause a neurodevelopmental disorder

22. Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management

24. Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients

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

26. Pediatric spinal pilocytic astrocytomas form a distinct epigenetic subclass from pilocytic astrocytomas of other locations and diffuse leptomeningeal glioneuronal tumours

28. Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as “Glioneuronal Tumors, NOS, Subtype A”

32. Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children

34. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation

35. Automatic quantification of the microvascular density on whole slide images, applied to paediatric brain tumours

36. A comprehensive histomolecular characterization of meningioangiomatosis: Further evidence for a precursor neoplastic lesion.

37. Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease

38. The role of irinotecan-bevacizumab as rescue regimen in children with low-grade gliomas: a retrospective nationwide study in 72 patients

39. Genotype–phenotype correlations in individuals with pathogenic RERE variants

41. The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile

43. Natural history of Myhre syndrome

44. Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

45. Optimization of a Shape Metric Based on Information Theory Applied to Segmentation Fusion and Evaluation in Multimodal MRI for DIPG Tumor Analysis

47. Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of histological and biological characteristics with multimodal MRI features

49. Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex

50. Fatal encephalitis caused by Newcastle disease virus in a child

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