Enfermedades Neuromusculares y Trastornos Motores de la Infancia y Adolescencia
Erazo Torricelli, Ricardo.
Rev. chil. psiquiatr. neurol. infanc. adolesc. (Impr.)
; 30(3): 7-8, dic.2019.
Artículo en Español | LILACS | ID: biblio-1411999
Documentos relacionados
Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.
Neuromuscular disorders: finding the missing genetic diagnoses.
[Genomics and proteomics in the research of neuromuscular diseases].
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Clinical exome sequencing in neuromuscular diseases: an experience from Turkey.
Hunting for the perfect test: Neuromuscular diagnosis in the age of genomic bounty.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
The spectrum of hereditary neuromuscular disorders in the Pakistani population.