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1Academic Journal
المؤلفون: Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul J. Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud V. Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, for UD-PrOZA
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Rare diseases, UD-PrOZA, Diagnostic odyssey, Whole exome sequencing, Diagnostic yield, MAP3K7, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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المؤلفون: Schuermans, Nika, Hemelsoet, Dimitri, Terryn, Wim, Steyaert, Sanne, Van Coster, Rudy, Coucke, Paul, Steyaert, Wouter, Callewaert, Bert, Bogaert, Elke, Verloo, Patrick, Vanlander, Arnaud, Debackere, Elke, Ghijsels, Jody, LeBlanc, Pontus, Verdin, Hannah, Naesens, Leslie, Haerynck, Filomeen, Callens, Steven, Dermaut, Bart, Poppe, Bruce, De Bleecker, Jan, Santens, Patrick, Boon, Paul, Laureys, Guy, Kerre, Tessa, for UD-PrOZA, [missing]
المصدر: Orphanet Journal of Rare Diseases, 17
Orphanet Journal of Rare Diseases, 17, 1
ORPHANET JOURNAL OF RARE DISEASESمصطلحات موضوعية: Whole exome sequencing, SGO1, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, General Medicine, PLAAT3, Undiagnosed Diseases, Rare diseases, Diagnostic yield, SNORD118, ACMSD, Rare Diseases, All institutes and research themes of the Radboud University Medical Center, Exome Sequencing, Medicine and Health Sciences, IRF2BPL, Humans, Diagnostic odyssey, Exome, Pharmacology (medical), UD-PrOZA, Genetics (clinical)
وصف الملف: application/pdf
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