220 results on '"Jeanpierre M"'
Search Results
2. Chemotherapy orders near the end of life: A retrospective study in a French Nonteaching Hospital
3. Chimiothérapies dans les dernières semaines de vie : évaluation des prescriptions au centre hospitalier de Martigues
4. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
5. Fluorescence in situ hybridization analysis of chromosome 1 abnormalities in hematopoietic disorders: rearrangements of DNA satellite II and new recurrent translocations
6. No relationship between genetic instability in Bloom's syndrome and DNA hypomethylation of some major repetitive sequences
7. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
8. Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)
9. Construction and Characterization of Chromosomal DNA Libraries
10. Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease
11. The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific
12. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy
13. Detection of 1q polysomy in interphase nuclei of human solid tumors with a biotinylated probe
14. Gene for apolipoprotein CII is on human chromosome 19
15. Interface pharmacien ville–hôpital : analyse des forces et des faiblesses à partir de l’expérience dans une unité de chirurgie d’un hôpital non universitaire
16. G.P.144
17. Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome
18. Common SNPs of AmelogeninX (AMELX) and Dental Caries Susceptibility
19. Germinal mosaicism and risk calculation in X-linked diseases
20. M.P.4.02 Permanent muscle weakness in McArdle disease
21. G.P.7.11 Digenism as a cause of oculopharyngodistal myopathy
22. G.P.144: Identification of both LMNA and SMCHD1 mutations in a case with overlapping phenotypes
23. Etablissement de l’empreinte parentale dans la lignée germinale. Conséquences pour la prise en charge en AMP
24. Piège diagnostique et difficultés du conseil génétique dans une famille de patients porteurs de maladies neuromusculaires
25. Homogeneous phenotype of the gypsy limb-girdle MD with the -sarcoglycan C283Y mutation
26. Méthylation et maladies humaines: le cas du syndrome ICF.
27. Abnormal methylation does not prevent X inactivation in ICF patients
28. Gènes et retards de croissance intra-utérins.
29. Prenatal diagnosis of limb-girdle muscular dystrophy type 2C
30. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy
31. Gènes et retards de croissance intra-utérins
32. Penetrance of the FSHD mutation differs according to the D4Z4 repeat number
33. Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?
34. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy
35. Genetic and allelic heterogeneity of LGMD in North Africa
36. Primary adhalinopathy ( -sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
37. Undermethylation of Alu sequences in ICF syndrome: molecular and in situ analysis
38. From adhalinopathies to alpha-sarcoglycanopathies: An overview
39. Genetic, allelic and phenotypic heterogeneity of muscular dystrophies with primary and secondary involvement of adhalin (alpha-sarcoglycan)
40. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
41. Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy
42. Adhalin gene polymorphism
43. L'ADN peut-il se passer de la méthylation ?
44. Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.
45. Specific induction of uncoiling and recombination by azacytidine in classical satellite-containing constitutive heterochromatin
46. Hazard and probabilities of unknown genotypes
47. Permanent muscle weakness in MCArdle disease.
48. Contribution to carrier detection and genetic counselling in X linked retinoschisis.
49. Glomérulonéphrite à dépôts mésangiaux d'IgA et spondylarthropathie séronégative
50. Gènes Hox, développement des mammifères et acide rétinoïque
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