394 results on '"Mornet, E."'
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2. Adenoidectomia e tonsillectomia
3. Adenoidectomía y amigdalectomía
4. Tissue-nonspecific alkaline phosphatase is an anti-inflammatory nucleotidase
5. Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature
6. Assessment of chronic childhood dysphonia
7. Bilan d’une dysphonie chronique de l’enfant
8. Interprétation des fixations cervicofaciales suspectes découvertes sur les TEP/TDM réalisées dans le cadre d’un cancer bronchopulmonaire
9. Interpretation of suspect head and neck fixations seen on PET/CT in lung cancer
10. Hémi-thyroïdectomie en chirurgie ambulatoire
11. Outpatient hemithyroidectomy
12. Neurinome de l’acoustique et téléphonie mobile. Enseignements, limites et perspectives des études cliniques
13. Vestibular schwannoma and cell-phones. Results, limits and perspectives of clinical studies
14. Genome wide expression profile in human HTR-8/Svneo trophoblastic cells in response to overexpression of placental alkaline phosphatase gene
15. Genetics of hypophosphatasia
16. A sequence variation in the promoter of the placental alkaline phosphatase gene ( ALPP) is associated with allele-specific expression in human term placenta
17. Hémangiome du temporal
18. Haemangioma of the temporal bone
19. Neurosurgical aspects of childhood hypophosphatasia
20. A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein
21. A molecular approach to dominance in hypophosphatasia
22. A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations
23. Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21
24. A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene
25. Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images
26. CLINICAL CASE SEMINAR: Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene
27. Génétique de l'hypophosphatasie
28. Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene
29. Intralabyrinthine sporadic endolymphatic sac tumour
30. Localisation intra-labyrinthique d’une tumeur sporadique du sac endolymphatique
31. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics
32. Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies
33. ADN, les 50 ans de la double hélice : du concept d’hybridation moléculaire aux biopuces
34. Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family
35. Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
36. A polymorphic poly-A sequence in the 5′ region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11β-hydroxylase genes defects
37. The cystic fibrosis ΔF508 mutation in the French population
38. Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene
39. Infantile hypophosphatasia represents compound heterozygosity for a milder autosomal dominant trait
40. L’étude de la muqueuse sphénoïdale par analyse anatomopathologique a-t-elle un intérêt en cas de chirurgie par voie basse des adénomes hypophysaires ?
41. First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination
42. Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency
43. Polymorphisms of human albumin gene after DNA restriction by Hae III endonuclease
44. PREGNANCY FAILURE AND ALKALINE PHOSPHATASES: FROM MOUSE GENETICS TO HUMAN DISEASE
45. Biphosphonates In Hypophosphatasia: Not The Evil?
46. Evolutionary Analysis Of ALPL Validates And Predicts Human Mutations Leading To Hypophosphatasia
47. Oro-Dental Features In Hypophosphatasia : A Valuable Phenotype For Disease Diagnosis And Evaluation Of Future Treatment Outcomes
48. In Silico Scoring Of ALPL Gene Mutations Help To Distinguish Severe And Moderate Phenotypes In Hypophosphatasia
49. The 6th International Alkaline Phosphatase and Hypophosphatasia Symposium: Program
50. Growth Hormone Increases Growth Velocity And Alkaline Phosphatase Level In Children With Hypophosphatasia
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