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Elucidating the genetic architecture of Adams-Oliver syndro..:
Meester, Josephina A. N
;
Sukalo, Maja
;
Schroeder, Kim C
...
10.1002/humu.23567. , 2018
Link:
http://hdl.handle.net/10138/243769
RT Journal T1
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_243769&Exemplar=1&LAN=DE A1 Meester, Josephina A. N A1 Sukalo, Maja A1 Schroeder, Kim C A1 Schanze, Denny A1 Baynam, Gareth A1 Borck, Guntram A1 Bramswig, Nuria C A1 Duman, Duygu A1 Gilbert-Dussardier, Brigitte A1 Holder-Espinasse, Muriel A1 Itin, Peter A1 Johnson, Diana S A1 Joss, Shelagh A1 Koillinen, Hannele A1 McKenzie, Fiona A1 Morton, Jenny A1 Nelle, Heike A1 Reardon, Willie A1 Roll, Claudia A1 Salih, Mustafa A A1 Savarirayan, Ravi A1 Scurr, Ingrid A1 Splitt, Miranda A1 Thompson, Elizabeth A1 Titheradge, Hannah A1 Travers, Colm P A1 Van Maldergem, Lionel A1 Whiteford, Margo A1 Wieczorek, Dagmar A1 Vandeweyer, Geert A1 Trembath, Richard A1 Van Laer, Lut A1 Loeys, Bart L A1 Zenker, Martin A1 Southgate, Laura A1 Wuyts, Wim PB John Wiley & Sons, Ltd YR 2018 K1 Adams-Oliver syndrome K1 genetics K1 mutation screening K1 Notch signaling K1 Rho GTPase K1 APLASIA-CUTIS-CONGENITA K1 OF-FUNCTION MUTATIONS K1 CLINICAL PHENOTYPES K1 MISSENSE MUTATIONS K1 LIMB DEFECTS K1 NOTCH1 K1 ANOMALIES K1 VARIANTS K1 DOMAINS K1 ASSOCIATION K1 3111 Biomedicine JF 10.1002/humu.23567 LK http://hdl.handle.net/10138/243769 DO http://hdl.handle.net/10138/243769 SF ELIB - SuUB Bremen
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