103 results on '"Touraine R"'
Search Results
2. Maladies kystiques pulmonaires de l’adulte d’origine génétique
3. Validation of the NIH-Toolbox cognitive battery into different European languages in down syndrome population
4. Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up
5. Quels traitements pour la trisomie 21 ?
6. Lethal form of spinocerebellar ataxia type 7 with early onset in childhood
7. Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
8. AP4M1 mutations in patients with epilepsy
9. New insight in ARX-mutated patients' language specific impairment and underlying FOXP1 dysregulation
10. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?
11. Le phénotype complexe du syndrome ARC : une nouvelle observation
12. HomozygousPKP2deletion associated with neonatal left ventricle noncompaction
13. Explication génétique d’une ancienne entité clinique : angiokératome de Mibelli
14. Treatment of severe alopecia areata by topical applications of cyclosporin A: comparative trial versus placebo in 43 patients
15. Leukapheresis in the Sézary Syndrome
16. Contributors
17. Immunocytochemistry at the electron microscopic level: a new routine technique
18. Genetic susceptibility towards NSAID-induced toxic epidermal necrolysis
19. Les atrophies cutanées au cours de la corticothérapie générale
20. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia
21. Étude de corrélation génotype-phénotype chez des patients avec réarrangement de la région du gène SHOX détecté par MLPA dans la population française
22. Syndrome de Barth : le reconnaître, le traiter. Recommandations pour la prise en charge
23. Health-related quality of life of people with down’s syndrome: Initial results from a non-drug longitudinal multi-nationl study
24. Génotypage de polymorphismes génétiques responsables de la régulation de l’expression de CD40 ligand dans deux populations de donneurs de sang (Auvergne-Loire, France ; Sousse et Monastir, Tunisie)
25. Grossesse et syndrome d’Ehlers-Danlos vasculaire : prise en charge et complications
26. Syndrome de Börjeson-Forssman-Lehmann : phénotype et évolution clinique de la cohorte française
27. Genetic variation in TGFB1 gene and risk of idiopathic recurrent pregnancy loss
28. OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment
29. Identification of specific vascular endothelial growth factor susceptible and protective haplotypes associated with recurrent spontaneous miscarriages
30. Binder phenotype in mothers affected with autoimmune disorders
31. The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males
32. P309 - Le syndrome de Barth : à propos d’un cas
33. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
34. Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature
35. Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease
36. Graft versus host reaction and lichen planus
37. Study of folate in psoriasis: blood levels, intestinal absorption and cutaneous loss
38. Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene
39. P160 - Syndrome de Rothmund-Thomson et déficit en hormone de croissance
40. Acute renal failure in a patient with phosphofructokinase deficiency
41. Évaluation d’une technique simple et rapide de détection de microdélétions du bras long du chromosome Y
42. Génétique moléculaire de la maladie de Hirschsprung : un modèle de neurocristopathie multigénique
43. MR cholangiography in neonates and infants: feasibility and preliminary applications.
44. GENE THERAPY
45. Hepatic tumours during androgen therapy in Fanconi anaemia
46. The collagen lattice: a model for studying the physiology, biosynthetic function and pharmacology of the skin
47. PLACEBO-CONTROLLED TRIAL OF TOPICAL CYCLOSPORIN IN SEVERE ALOPECIA AREATA
48. Toxic epidermal necrolysis after oxicam use
49. Résultats d'une enquête auprès des allergologues français sur la pratique des tests aux pollens d'ambroisies en France
50. Plasma exchange in corticosteroid-resistant pemphigus
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