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Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature by Ana Victoria Marco Hernández, Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez, Francisco Martinez
Published 2021-11-01
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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center by Herminia Argente‐Escrig, Marina Frasquet, Juan Francisco Vázquez‐Costa, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Carmen Espinós, Vincenzo Lupo, Teresa Sevilla
Published 2021-09-01
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization by Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol
Published 2023-09-01
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