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372 results on '"Thevenon J."'

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1. Description of Feelings, Perception, and Experience Before and After Switching from IV Daratumumab to the SC Form: A Mixed-Method, Cross-Sectional Survey in Multiple Myeloma Patients in Europe

3. Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

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

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

7. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

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

11. P904: CILTACABTAGENE AUTOLEUCEL VS TREATMENTS FROM REAL-WORLD CLINICAL PRACTICE FOR TRIPLE CLASS EXPOSED PATIENTS WITH MULTIPLE MYELOMA: ADJUSTED COMPARISONS BASED ON CARTITUDE-1 AND THE EMMY FRENCH COHORT

12. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

13. PIGN encephalopathy: Characterizing the epileptology

17. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

19. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

22. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller-Gerold syndromes

25. DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies

26. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

27. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

28. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

32. Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

33. De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

34. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)

35. A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis

36. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

37. First presentation of fractures and bone healing in pediatric KBG Syndrome

38. Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene

39. PS1264 FRENCH IBRUTINIB OBSERVATIONAL STUDY (FIRE): REAL-WORLD STUDY OF IBRUTINIB TREATMENT FOR MANTLE CELL LYMPHOMA (MCL) IN FRANCE

40. Mosaicism in women with focal dermal hypoplasia

41. 局灶性真皮发育不全女性中的嵌合现象

42. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

43. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

44. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

49. Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

50. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

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