299 results on '"Marguet, Florent"'
Search Results
2. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
3. Prognostic value of circulating short-length DNA fragments in unresected glioblastoma patients
4. Detection of Tumor DNA in Bronchoscopic Fluids in Peripheral NSCLC: A Proof-of-Concept Study
5. Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses
6. A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
7. Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome
8. Le RNAseq en oncologie de routine
9. Impact of intertendinous connections between the flexor digitorum brevis and longus on percutaneous tenotomy for the treatment of claw toes: an anatomic and ultrasound study
10. SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
11. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
12. An improved assay for detection of theranostic gene translocations and MET exon 14 skipping in thoracic oncology
13. Muscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging
14. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
15. Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
16. Ligation-dependent RT-PCR: a new specific and low-cost technique to detect ALK, ROS, and RET rearrangements in lung adenocarcinoma
17. A new optimization strategy for MALDI FTICR MS tissue analysis for untargeted metabolomics using experimental design and data modeling
18. Stereotactic brain biopsy: evaluation of robot-assisted procedure in 60 patients
19. Prenatal alcohol exposure is a leading cause of interneuronopathy in humans
20. Prenatal Alcohol Exposure Impairs the Placenta–Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways
21. Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma
22. Simultaneous detection of EGFR amplification and EGFRvIII variant using digital PCR-based method in glioblastoma
23. Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination
24. Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas
25. Spinal meningioma and factors predictive of post-operative deterioration
26. In UteroAlcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons
27. Spinal Cord Lesions
28. Pseudo-Sarcoidosis Revealing MonoMAC Syndrome
29. Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes.
30. Assessment of endobronchial ultrasound‐guided bronchoscopy (EBUS) intranodal forceps biopsy added to EBUS 19‐gauge transbronchial needle aspiration: A blinded pathology panel analysis.
31. Pathological changes induced by Alzheimer’s brain inoculation in amyloid-beta plaque-bearing mice
32. Endoplasmic reticulum stress, unfolded protein response and development of colon adenocarcinoma
33. Impact of EGFRA289T/Vmutation on relapse pattern in glioblastoma.
34. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
35. Autopsy findings in EPG5‐related Vici syndrome with antenatal onset
36. Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
37. In Utero Alcohol Exposure Impairs Retinal Angiogenesis and the Microvessel-Associated Positioning of Calretinin Interneurons.
38. Overlapping cortical malformations in patients with pathogenic variants inGRIN1andGRIN2B
39. Impact de l’alcoolisation in utero sur les interactions oligo-vasculaires au sein du néocortex en développement
40. Additional file 1 of A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
41. Morphological and Molecular Characterization of KRAS G12C-Mutated Lung Adenocarcinomas
42. Clinical and pathologic features of Aicardi–Goutières syndrome due to an IFIH1 mutation: A pediatric case report
43. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
44. Squamous Cell Carcinoma of the Lung With Microsatellite Instability in a Patient With Lynch Syndrome: A Case Report
45. Integrative Metabolomics Reveals Deep Tissue and Systemic Metabolic Remodeling in Glioblastoma
46. Additional file 1 of Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
47. Lymphome de la zone marginale localisé à la dure-mère
48. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B
49. Overlapping cortical malformations in patients with pathogenic variants in GRIN1and GRIN2B
50. Targeting the Urotensin II/UT G Protein-Coupled Receptor to Counteract Angiogenesis and Mesenchymal Hypoxia/Necrosis in Glioblastoma
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.