title: Diagnostic success with pitfalls.
authors.forename: Torunn
authors.initials: T
authors.lastname: Fiskerstrand
mesh_terms: D059472:Exome; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009422:Nervous System Diseases; D010523:Peripheral Nervous System Diseases; D017422:Sequence Analysis, DNA