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

2. Keratoconus and the Impact of Treatment on Patients’ Quality of Life: A Qualitative Study

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

4. Ocular sequelae of epidermal necrolysis: French national audit of practices, literature review and proposed management

6. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

7. Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

9. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

11. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

13. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

14. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

15. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

16. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

17. Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

18. Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement

20. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

21. Impact de l’âge et du sexe sur les aspects cliniques et épidémiologiques du psoriasis de l’enfant. Données d’une étude transversale multicentrique française

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

23. Sustained Remission Without Corticosteroids Among Patients With Pemphigus Who Had Rituximab as First-Line Therapy: Follow-Up of the Ritux 3 Trial

24. Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque

25. Syndromes avec malformations vasculaires cutanées hypertrophiques associés aux mutations du gène PIK3R1

27. VEGF, facteur tissulaire, marqueurs de la coagulation et de la fibrinolyse dans les malformations vasculaires à flux lent : étude prospective et impact du sirolimus

28. Efficacité et tolérance à long terme des schémas thérapeutiques testés chez les patients atteints de pemphigus inclus dans l’essai clinique Ritux 3

29. Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE

30. Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design

31. Toward a Metal-Free Contact Based on Multilayer Epitaxial Graphene on 4H-SiC

34. RECONNAISSANCE : étude de la perception des lésions cutanées congénitales par les professionnels de santé en salle de naissance

35. Le syndrome de Bonnet-Dechaume-Blanc ou Wyburn-Mason est causé par une mutation somatique du gène KRAS

36. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

37. A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement

45. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

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

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