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	1.	Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing. [electronic resource] by Theunissen, Tom E J Sallevelt, Suzanne C E H Hellebrekers, Debby M E I de Koning, Bart Hendrickx, Alexandra T M van den Bosch, Bianca J C Kamps, Rick Schoonderwoerd, Kees Szklarczyk, Radek Mulder-Den Hartog, Elvira N M de Coo, Irenaeus F M Smeets, Hubert J M Producer: 20170621 In: The Journal of pediatrics vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects. [electronic resource] by Theunissen, Tom E J Szklarczyk, Radek Gerards, Mike Hellebrekers, Debby M E I Mulder-Den Hartog, Elvira N M Vanoevelen, Jo Kamps, Rick de Koning, Bart Rutledge, S Lane Schmitt-Mechelke, Thomas van Berkel, Carola G M van der Knaap, Marjo S de Coo, Irenaeus F M Smeets, Hubert J M Publication details: Frontiers in neurology 2016 In: Frontiers in neurology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. [electronic resource] by Theunissen, Tom E J Nguyen, Minh Kamps, Rick Hendrickx, Alexandra T Sallevelt, Suzanne C E H Gottschalk, Ralph W H Calis, Chantal M Stassen, Alphons P M de Koning, Bart Mulder-Den Hartog, Elvira N M Schoonderwoerd, Kees Fuchs, Sabine A Hilhorst-Hofstee, Yvonne de Visser, Marianne Vanoevelen, Jo Szklarczyk, Radek Gerards, Mike de Coo, Irenaeus F M Hellebrekers, Debby M E I Smeets, Hubert J M Publication details: Frontiers in genetics 2018 In: Frontiers in genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)