377 results on '"Bourrat, Emmanuelle"'
Search Results
2. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
3. Effectiveness of topical sodium thiosulfate for ectopic calcifications and ossifications. Results of the CATSS-O study
4. Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy
5. Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS‐positive variant patients.
6. CXCR4 Antagonist in HPV5-Associated Perianal Squamous-Cell Carcinoma
7. SARS-CoV-2 infection inducing severe flare up of Deficiency of Interleukin Thirty-six (IL-36) Receptor Antagonist (DITRA) resulting from a mutation invalidating the activating cleavage site of the IL-36 receptor antagonist
8. La pachydermopériostose revisitée
9. Les auteurs
10. Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa.
11. Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa.
12. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
13. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
14. Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome
15. Expanding the phenotype of GTF2E2‐associated trichothiodystrophy.
16. Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.
17. Carcinomes épidermoïdes cutanés : une complication des formes graves d’épidermolyses bulleuses héréditaires
18. Grandir avec une EBH, un exemple de transition pédiatrie-service d’adultes dans le domaine des maladies rares
19. Carcinomes épidermoïdes cutanés au cours de l’EBDR : comment les dépister ?
20. Effective management of severe chronic erythema nodosum leprosum in adolescent patient using ustekinumab and apremilast: A case report
21. Expanding the phenotype of GTF2E2‐associated trichothiodystrophy
22. Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome
23. Evaluation of Children with Psoriasis from the BiPe Cohort: Are Patients Using Biotherapies in Real Life Eligible for Phase III Clinical Studies?
24. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
25. Self-application of aminoglycoside-based creams to treat cutaneous leishmaniasis in travelers
26. Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide study
27. Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
28. Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
29. Effective management of severe chronic erythema nodosum leprosum in adolescent patient using ustekinumab and apremilast: A case report.
30. Infliximab Paradoxical Psoriasis in a Cohort of Children With Inflammatory Bowel Disease
31. AQP5 , a second gene at play with CFTR in aquagenic palmoplantar keratoderma
32. Folliculitis decalvans and dystrophic epidermolysis bullosa: a significant association
33. Association of atypical skin manifestations at the onset of systemic juvenile idiopathic arthritis with difficult-to-treat disease: A retrospective multicenter study
34. Burden of caregivers and out‐of‐pocket expenditures related to epidermolysis bullosa in France
35. Acrogeria, an exceptional cause of acro-osteolysis.
36. Alitretinoin reduces erythema in inherited ichthyosis
37. Direct Microscopy: A Useful Tool to Diagnose Oral Candidiasis in Children and Adolescents
38. The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature
39. The importance of dosage for naltrexone treatment in Hailey-Hailey disease
40. Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses
41. Chapitre 9 - La pachydermopériostose revisitée
42. LC-MS/MS Identification of Prolidase Deficiency: A Rare Cause of Infantile Hepatosplenomegaly
43. Novel Pathogenic Variants in SLCO2A1 Causing Autosomal Dominant Primary Hypertrophic Osteoarthropathy
44. Genetics of complex and syndromic palmoplantar keratoderma
45. Ichtyose congénitale autosomique récessive et psoriasis : association fortuite ou lien physiopathologique ?
46. Hypohidrose, ichtyose et hypokaliémie : le syndrome HELIX
47. Poussée sévère de DITRA causée par le SARS-CoV-2
48. Le monilethrix : une dysplasie ectodermique ?
49. COVID-19 et psoriasis chez l’enfant. Données d’une cohorte internationale
50. Première étude descriptive de l’atteinte vulvaire et du suivi gynéco-obstétrical des patientes atteintes d’épidermolyse bulleuse dystrophique
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