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1 Ergebnisse
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De novo variants in FRYL are associated with developmental ..:
Pan, Xueyang
;
Tao, Alice M.
;
Lu, Shenzhao
...
The American Journal of Human Genetics. 111 (2024) 4 - p. 742-760 , 2024
Link:
https://doi.org/10.1016/j.ajhg.2024.02.007
RT Journal T1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2024.02.007&Exemplar=1&LAN=DE A1 Pan, Xueyang A1 Tao, Alice M. A1 Lu, Shenzhao A1 Ma, Mengqi A1 Hannan, Shabab B. A1 Slaugh, Rachel A1 Drewes Williams, Sarah A1 O'Grady, Lauren A1 Kanca, Oguz A1 Person, Richard A1 Carter, Melissa T. A1 Platzer, Konrad A1 Schnabel, Franziska A1 Abou Jamra, Rami A1 Roberts, Amy E. A1 Newburger, Jane W. A1 Revah-Politi, Anya A1 Granadillo, Jorge L. A1 Stegmann, Alexander P.A. A1 Sinnema, Margje A1 Accogli, Andrea A1 Salpietro, Vincenzo A1 Capra, Valeria A1 Ghaloul-Gonzalez, Lina A1 Brueckner, Martina A1 Simon, Marleen E.H. A1 Sweetser, David A. A1 Glinton, Kevin E. A1 Kirk, Susan E. A1 Burrage, Lindsay C. PB Elsevier BV YR 2024 SN 0002-9297 JF The American Journal of Human Genetics VO 111 IS 4 SP 742 OP 760 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2024.02.007 DO https://doi.org/10.1016/j.ajhg.2024.02.007 SF ELIB - SuUB Bremen
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