35 results on '"Biancalana, Valerie"'
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2. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
3. Dépistage génétique néonatal : à propos du programme pilote sur l’amyotrophie spinale (DEPISMA)
4. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
5. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
6. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
7. Chapitre 22 - Maladies génétiques fréquentes de transmission non mendélienne : les maladies associées aux mutations dynamiques
8. Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
9. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
10. Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall
11. Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation
12. Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study
13. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
14. Expansion of fragile X CGG Repeat in females with premutation or intermediate alleles
15. Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy
16. Mutation studies in X-linked myotubular myopathy in three Indian families
17. Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
18. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
19. Liste des collaborateurs
20. Genotype–phenotype correlations in X-linked myotubular myopathy
21. Chapitre 22 - Maladies génétiques fréquentes de transmission non mendélienne : les maladies associées aux mutations dynamiques
22. Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females
23. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
24. Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
25. Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1
26. Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
27. A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
28. Liste des collaborateurs
29. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
30. Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
31. Genotype–phenotype relationship in female carriers of the premutation and full mutation of FMR-1
32. Construction of a High-Resolution Linkage Map for Xp22.1-p22.2 and Refinement of the Genetic Localization of the Coffin-Lowry Syndrome Gene
33. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
34. Expression of FMR1, FXR1, and FXR2 Genes in Human Prenatal Tissues
35. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
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