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1 Ergebnisse
1
Clinical diagnostic exome evaluation for an infant with a l..:
Powis, Zöe
;
Hart, Alexa
;
Cherny, Sara
...
BMC Medical Genetics. 18 (2017) 1 - p. , 2017
Link:
https://doi.org/10.1186/s12881-017-0426-3
RT Journal T1
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration
UL https://suche.suub.uni-bremen.de/peid=cr-10.1186_s12881-017-0426-3&Exemplar=1&LAN=DE A1 Powis, Zöe A1 Hart, Alexa A1 Cherny, Sara A1 Petrik, Igor A1 Palmaer, Erika A1 Tang, Sha A1 Jones, Carolyn PB Springer Science and Business Media LLC YR 2017 SN 1471-2350 JF BMC Medical Genetics VO 18 IS 1 LK http://dx.doi.org/https://doi.org/10.1186/s12881-017-0426-3 DO https://doi.org/10.1186/s12881-017-0426-3 SF ELIB - SuUB Bremen
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