about
Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesCommentary to medical genetics and genomic medicine in Chile: Chilean experience on molecular diagnosis for neurodegenerative disorders.Advances in Sequencing Technologies for Understanding Hereditary Ataxias: A Review.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Prevalence of spinocerebellar ataxia 36 in a US population.The need to develop a patient-centered precision medicine model for adults with chronic disability.Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency
P2860
Q33670246-691A5420-CACE-4D06-8E55-DF95564AE408Q33906950-775F07EE-C09A-476B-96D6-C7637C2124ABQ38982968-E558CF24-4B88-4341-B091-1E9E2E699CEFQ39119100-3D83608F-1D9B-4C79-9840-E39D018447B9Q41048911-A913F0E4-EFB0-46C1-8A3B-36FC6982B80DQ45999025-C7BD3219-3038-40FB-9F9D-330B669E2453Q46225649-873F820C-9313-4FDD-AA8A-F02E72661562Q49206263-46CEC213-2026-4C66-ABFD-453EA2F53AEDQ50127011-C0C02BCC-3417-4704-B107-0C1D822C8620Q58120662-DDEBF9BF-D535-4DEB-90CD-A427AFD3442F
P2860
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Clinical exome sequencing in neurologic disease.
@en
type
label
Clinical exome sequencing in neurologic disease.
@en
prefLabel
Clinical exome sequencing in neurologic disease.
@en
P2093
P2860
P1476
Clinical exome sequencing in neurologic disease.
@en
P2093
Brent L Fogel
Bruce H Cohen
Saty Satya-Murti
P2860
P304
P356
10.1212/CPJ.0000000000000239
P577
2016-04-01T00:00:00Z