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Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Padilha, Janice Pacheco Dias; Brasil, Carolina Serpa; Hoefel, Alice Maria Luderitz; Winckler, Pablo Brea; Donis, Karina Carvalho; Brusius-Facchin, Ana Carolina; Saute, Jonas Alex Morales.
Affiliation
  • Padilha JPD; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Brasil CS; Translational Neurogenetics Laboratory, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Hoefel AML; Division of Medical Genetics, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Winckler PB; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Donis KC; Neurogenetics Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
  • Brusius-Facchin AC; Graduate Program in Medicine, Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
  • Saute JAM; Neurogenetics Clinical Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Clin Genet ; 98(2): 185-190, 2020 08.
Article in En | MEDLINE | ID: mdl-32506583
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Connexins / Myelin P0 Protein / Myelin Proteins Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Connexins / Myelin P0 Protein / Myelin Proteins Type of study: Diagnostic_studies / Observational_studies / Risk_factors_studies Limits: Adult / Female / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: