42 results on '"Gallano, Pia"'
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2. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
3. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
4. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
5. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
6. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
7. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
8. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
9. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease
10. Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
11. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
12. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
13. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
14. The phenotype and genotype of congenital myopathies based on a large pediatric cohort
15. Anoctamin 5 (ANO5) muscular dystrophy—three different phenotypes and a new histological pattern
16. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
17. Cylindrical spirals in two families: Clinical and genetic investigations
18. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
19. Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
20. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
21. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement
22. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling
23. Disferlinopatía, una causa de falsa polimiositis refractaria
24. Dysferlinopathy masquerading as a refractory polymyositis
25. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
26. Genome and Chromosome Mutations Balance Between Appearance and Elimination
27. Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
28. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
29. Recomendaciones de buena práctica para el diagnóstico genético de las distrofias musculares de Duchenne y de Becker
30. Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population
31. Distrofia muscular por déficit de gsarcoglicano. aportación de tres pacientes con la mutación D-521T
32. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
33. Adhalinopatía primaria (LGMD2D) de inicio en los primeros meses de la vida que simula una distrofia muscular congénita
34. Alteraciones en las proteínas funcionales. Déficit de calpaína 3
35. Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene
36. Three novel point mutations in the dystrophin gene in DMD patients
37. Three novel point mutations in the dystrophin gene in DMD patients
38. Three novel point mutations in the dystrophin gene in DMD patients
39. A novel insertional mutation of a single base in exon 12 of the dystrophin gene
40. The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific
41. Lambda lg constant region genes are translocated to chromosome 8 in Burkitt's lymphoma with t(8:22
42. The pro?2 (V) collagen gene (COL5A2) maps to 2q14?2q32, syntenic to the pro?1 (III) collagen locus (COL3A1)
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