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A novel inverted 17p13.3 microduplication disrupting PAFAH1..:
Classen, Sabrina
;
Goecke, Timm
;
Drechsler, Matthias
...
American Journal of Medical Genetics Part A. 161 (2013) 6 - p. 1453-1458 , 2013
Link:
https://doi.org/10.1002/ajmg.a.35904
RT Journal T1 <Title>A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.35904&Exemplar=1&LAN=DE A1 Classen, Sabrina A1 Goecke, Timm A1 Drechsler, Matthias A1 Betz, Beate A1 Nickel, Natalie A1 Beier, Manfred A1 Schaper, Jörg A1 Karenfort, Michael A1 Royer‐Pokora, Brigitte PB Wiley YR 2013 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 161 IS 6 SP 1453 OP 1458 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.35904 DO https://doi.org/10.1002/ajmg.a.35904 SF ELIB - SuUB Bremen
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