30 results on '"Gallano, P."'
Search Results
2. Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases
3. Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos
4. P.156 Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features
5. P.02 Mild nemaline myopathy 10 caused by a novel missense homozygous mutation in LMOD3: broadening the phenotype-genotype correlation
6. LMNA mutation in progeroid syndrome in association with strokes
7. P.335 - Two different NGS approaches to address molecular diagnosis of congenital neuromuscular diseases
8. P.249 - X-Linked myotubular myopathy (XLMTM): phenotypic variability
9. P.44 - A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 gene
10. A new phenotype of dysferlinopathy with congenital onset
11. P.84 - Desminopathy in Chile, first cases reported
12. P.18 - Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
13. P.3 - LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene
14. G.P.383 - Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene
15. G.P.167 - Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia
16. G.P.25: Low prevalence of skeletal muscle involvement in patients suffering from idiopathic cardiomyopathy
17. P.2.14 Isolated cognitive abnormalities associated to DMD mutations
18. G.P.79 DMD mutation spectrum in 611 unrelated dystrophinopathy families
19. P2.34 Mutational spectrum of sarcoglycanopathies in Spain
20. P2.30 Caveolinopathy: Further clinical heterogeneity
21. P1.20 Complete X-inactivation of the maternally X-chromosome in a girl with Duchenne muscular dystrophy and severe mental retardation
22. P1.18 Dystrophinopathy in manifesting female carriers: Clinical and genetic characterization in a cohort of 20 patients
23. P4.06 Somatic mosaicism in a Duchenne/Becker muscular dystrophy patient
24. P3.34 Ultrasound evaluation of nuchal translucency thickness and fetal movements in 98 pregnancies at risk for type I spinal muscular atrophy: relevance of the SMN2 copy number
25. P1.48 Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients
26. P18 Variant triplet repeats in the CTG expansion of DMPK affect stability of the expanded region and may contribute to unusual symptoms observed in some myotonic dystrophy type 1 cases
27. G.P.13.09 Muscle biopsy mRNA-based analysis of point mutations in DMD gene in Spanish patients
28. G.P.10.06 Caveolinopathy presenting as neonatal hypotonia
29. G.P.6.01 Measurements of progression in dysferlin myopathies: A preliminary prospective quantitative study
30. G.P.10.03 Quantification of dysferlin in monocytes: A useful tool for the detection of patients and carriers of dysferlinopathy
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