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1 Ergebnisse
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Looking beyond the exome: a phenotype-first approach to mol..:
Pena, Loren D.M.
;
Jiang, Yong-Hui
;
Schoch, Kelly
...
Genetics in Medicine. 20 (2018) 4 - p. 464-469 , 2018
Link:
https://doi.org/10.1038/gim.2017.128
RT Journal T1
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_gim.2017.128&Exemplar=1&LAN=DE A1 Pena, Loren D.M. A1 Jiang, Yong-Hui A1 Schoch, Kelly A1 Spillmann, Rebecca C. A1 Walley, Nicole A1 Stong, Nicholas A1 Rapisardo Horn, Sarah A1 Sullivan, Jennifer A. A1 McConkie-Rosell, Allyn A1 Kansagra, Sujay A1 Smith, Edward C. A1 El-Dairi, Mays A1 Bellet, Jane A1 Keels, Martha Ann A1 Jasien, Joan A1 Kranz, Peter G. A1 Noel, Richard A1 Nagaraj, Shashi K. A1 Lark, Robert K. A1 Wechsler, Daniel S.G. A1 del Gaudio, Daniela A1 Leung, Marco L. A1 Hendon, Laura G. A1 Parker, Collette C. A1 Jones, Kelly L. A1 Goldstein, David B. A1 Shashi, Vandana A1 Alejandro, Mercedes E. A1 Bacino, Carlos A. A1 Balasubramanyam, Ashok PB Elsevier BV YR 2018 SN 1098-3600 JF Genetics in Medicine VO 20 IS 4 SP 464 OP 469 LK http://dx.doi.org/https://doi.org/10.1038/gim.2017.128 DO https://doi.org/10.1038/gim.2017.128 SF ELIB - SuUB Bremen
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