347 results on '"Plauchu, H."'
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2. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care
3. Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations: an international study
4. Immunological abnormalities associated with hereditary haemorrhagic telangiectasia
5. What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
6. The new Ghent criteria for Marfan syndrome: what do they change?
7. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
8. POLYMICROGYRIA: AN UNDERRECOGNIZED CAUSE OF EPILEPSY IN PATIENTS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA (RENDU-OSLER DISEASE)?: 019
9. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
10. Visceral manifestations in hereditary haemorrhagic telangiectasia type 2
11. Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
12. Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis
13. Les surdités génétiques : première cause de surdité de perception de l’enfant
14. 3.3 Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome
15. Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene
16. L'ÉMIGRATION A COURT ET MOYEN RAYON A PARTIR DE LA VALLÉE DE LA VALSERINE AU DÉBUT DU XXe SIÈCLE
17. 01.02 Geometric and Elastic Properties of the Common Carotid Artery in Vascular Ehlers-Danlos Syndrome Patients with Identified COL3A1 Mutations
18. A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15
19. 21 Mode de révélation des fistules artérioveineuses pulmonaires au cours de la maladie de Rendu-Osler. Etude de 47 cas
20. Rectocolic familial polyposis; a study of 32 cases
21. Detection of carriers for duchenne muscular dystrophy. Quality control of creatine kinase assay
22. Hereditary hemorrhagic telangiectasia : significance of positive contrast echocardiography in patients without pulmonary arterio-venous malformation
23. [Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa]
24. High prevalence of hepatic focal nodular hyperplasia (FNH) in subjects with hereditary hemorrhagic telangiectasia (HHT)
25. Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24
26. Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
27. A novel C202F mutation in the connexin 26 gene (GJB2) associated with late childhood onset autosomal dominant hearing loss
28. Macular dystrophy of malattia leventinese. A 25 year follow up
29. Grossesse et syndrome d’Ehlers-Danlos vasculaire : prise en charge et complications
30. Syndrome d'ehlers-danlos vasculaire. diagnostic 17 ans après les premières manifestations digestives
31. Caractéristiques phénotypiques d’une population de patients présentant des anomalies de microscopie électronique compatibles avec le diagnostic d’Ehlers Danlos Vasculaire
32. The new Ghent criteria for Marfan syndrome: what do they change?
33. Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients
34. Genotype-phenotype correlation in 104 patients with vascular Ehlers-Danlos syndrome: Evidence for a mild form of the disease
35. 314 Outcomes and prognosis in patient with TGFBR2 or FBN1 gene mutation
36. Maladie de Rendu Osler et grossesse : analyse rétrospective de 66 grossesses
37. Echographie avec produit de contraste dans les atteintes hepatiques de la maladie de rendu osler
38. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
39. Maladie de Rendu Osler : nouveau facteur de risque de thrombose ?
40. STROKE FOLLOWING PULMONARY ARTERIOVENOUS FISTULA EMBOLIZATION IN A PATIENT WITH HHT
41. SFP-P116 – Génétique – Les syndromes marfanoïdes : quel pronostic vasculaire et orthopédique ?
42. Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association
43. Syndrome de Marfan et grossesse
44. Doppler Ultrasonographic Grading of Hepatic Vascular Malformations in Hereditary Hemorrhagic Telangiectasia - Results of Extensive Screening
45. LIVER TRANSPLANTATION FOR HEREDITARY HAEMORRHAGIC TELANGIECTASIA (RENDU-OSLER DISEASE) WITH HEPATIC INVOLVEMENT: INDICATION AND LONG TERM RESULTS IN 10 PATIENTS.
46. Toriello–Carey syndrome and unbalanced translocation t(8;18)(p12;q22)
47. P-18 Manifestation neuroradiologiques de la maladie de rendu osler : notre expérience
48. Insuffisance mitrale aiguë révélatrice d'une maladie d'Ehlers-Danios de type IV dans le post-partum
49. Infantile ascending hereditary spastic paralysis (IAHSP)
50. First prenatal diagnosis of partial trisomy 10 and partial monosomy 15 derived from a maternal translocation (10;15)(q11;q13)
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