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pro vyhledávání: '"Carola GM van Berkel"'
Autor:
Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets
Publikováno v:
Frontiers in Neurology, Vol 7 (2016)
In establishing a genetic diagnosis in heterogeneous neurological disease, clinical characterization and whole exome sequencing (WES) go hand-in-hand. Clinical data are essential, not only to guide WES variant selection and define the clinical severi
Externí odkaz:
https://doaj.org/article/769aa808d8e0462fa537e50627b5aa26
