Showing results 4 to 5 of 5
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Title | Author(s) | Issue Date | |
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Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? Journal:Molecular Genetics & Genomic Medicine | 2015 | ||
Recurrent de novo missense mutations in PP1CB cause a novel rasopathy closely resembling Noonan syndrome with loose anagen hair (Reviewer choice) Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | Gripp, KWAldinger, KABennett, JBaker, LTusi, JPowell-Hamilton, NStabley, DSol-Church, KTimms, ADobyns, WBde Man, ALarson, ASpruijt, LKoolen, DStevens, SJCStegmann, APANillesen, MWNorrhock, HVBelien, MNellist, MVerheijen, FWilems, PJChung, BHYDubbs, HBhoj, ESantani, AMcDougall, CZackai, EHRinne, TKWessels, MW | 2016 |