Showing results 3 to 4 of 4 < previous
Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?
Journal:Molecular Genetics & Genomic Medicine
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