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Journal of Neuromuscular Diseases|March 15, 2024
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital MyopathyBerta Estévez-Arias, Leslie Matalonga, Loreto Martorell, et al.
The Journal of Molecular Diagnostics : JMD|November 23, 2020
Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare DiseasesJordi Pijuan, María Rodríguez-Sanz, Daniel Natera-de Benito, et al.
Developmental Medicine and Child Neurology|March 16, 2024
Common data elements for arthrogryposis multiplex congenita: An international frameworkShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Thyroid : Official Journal of the American Thyroid Association|May 17, 2024
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZBeatriz Villafuerte, Carlos Carrasco-López, Amanda Herranz, et al.
Pediatric Neurology|April 24, 2021
Copper Toxicity Associated With an ATP7A-Related Complex PhenotypeDaniel Natera-de Benito, Abel Sola, Paulo Rego Sousa, et al.
Pediatric Neurology|December 17, 2020
The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric CohortDaniel Natera-de Benito, Carlos Ortez, Cristina Jou, et al.
Annals of Clinical and Translational Neurology|May 2, 2024
Epilepsy in Duchenne and Becker muscular dystrophiesJesus Alfonso Armijo Gómez, Miguel A Fernandez-Garcia, Ana Camacho, et al.
Journal of Medical Genetics|December 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing eventsAlba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín, et al.
Scientific Reports|October 3, 2019
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
Scientific Reports|November 11, 2020
Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the proteinMiroslav P Milev, Daniela Stanga, Anne Schänzer, et al.
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