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Characterization of Phenotypic Variability in Becker Muscular Dystrophy for Clinical Practice and Towards Trial Readiness: A Two-Years Follow up Study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 375, doi. 10.3233/JND-221513
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- Article
How to define and enhance diagnostic and assistance pathways in neuromuscular diseases during the COVID-19 pandemic: the concept of network.
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- Acta Myologica, 2021, v. 40, n. 4, p. 172, doi. 10.36185/2532-1900-060
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- Article
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
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- Article
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review.
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- Audiology Research, 2021, v. 11, n. 4, p. 609, doi. 10.3390/audiolres11040055
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- Article
KLHL40-Related Myopathy: A Systematic Review and Insight into a Follow-up Biomarker via a New Case Report.
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- Genes, 2024, v. 15, n. 2, p. 208, doi. 10.3390/genes15020208
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- Article
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
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- Genes, 2023, v. 14, n. 7, p. 1363, doi. 10.3390/genes14071363
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- Article
Behavioural and Emotional Changes during COVID-19 Lockdown in an Italian Paediatric Population with Neurologic and Psychiatric Disorders.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 12, p. 918, doi. 10.3390/brainsci10120918
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- Article
Further characterization of NFIB‐associated phenotypes: Report of two new individuals.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 540, doi. 10.1002/ajmg.a.63018
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- Article