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1,002 results on '"Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE )"'

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1. Complex 4q35 and 10q26 Rearrangements

2. Treatabolome DB: linking gene and variants with treatments for rare diseases

3. NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

4. OPALE: A patient registry for Laminopathies and Emerinopathies in France

5. Molecular and clinical description of patients with GABA A receptor gene variants ( GABRA1 , GABRB2 , GABRB3 , GABRG2 ): a cohort study, review of literature, and genotype‐phenotype correlations

6. OPALE: A patient registry for Laminopathies and Emerinopathies in France

7. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

8. Treatabolome database: current state and new developments towards enhancing rare disease treatment visibility

9. miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence

10. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

11. Functional status in older patients with cancer

12. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

13. VULNERABILITY OF PROGEROID SMOOTH MUSCLE CELLS TO ARTERIAL SHEAR STRESS IS MEDIATED BY MMP13

14. MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells

15. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum

16. The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility

17. Intellectual outcome from 1 to 5 years after epilepsy surgery in 81 children and adolescents: A longitudinal study

18. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

19. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

20. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

21. Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype

22. Octogenarians treated for thoracic and lung cancers: Impact of comprehensive geriatric assessment

23. Laminopathies’ Treatments Systematic Review: A Contribution Towards a ‘Treatabolome’

24. FANCA Gene Mutations in North African Fanconi Anemia Patients

25. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

26. Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

27. Reprogrammed Pteropus Bat Stem Cells Present Distinct Immune Signature and are Highly Permissive for Henipaviruses

28. Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

29. Pediatric cardiac computed tomography angiography: Expert consensus from the Filiale de Cardiologie Pédiatrique et Congénitale (FCPC) and the Société Française d’Imagerie Cardiaque et Vasculaire diagnostique et interventionnelle (SFICV)

30. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation

31. Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

32. An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

33. Adult desmoid tumors: biology, management and ongoing trials

34. A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome

35. Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature

36. Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma

37. Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

38. Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis

39. Soluble CD146, an innovative and non-invasive biomarker of embryo selection for in-vitro fertilization

40. Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

41. Twelfth Annual Meeting of the French Society of Cell and Gene Therapy

42. Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation

43. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

44. Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

45. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

46. Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

47. High Aspect Ratio Sub-Micrometer Channels Using Wet Etching: Application to the Dynamics of Red Blood Cell Transiting through Biomimetic Splenic Slits

48. Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

49. Diagnosis of Infective Endocarditis After TAVR

50. Substrate Topography Modulates Cell Aging on a Progeria Cell Model

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