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1 Ergebnisse
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Heterozygous loss-of-function variants of MEIS2 cause a tri..:
DDD study
;
Verheije, Rosalind
;
Kupchik, Gabriel S.
...
European Journal of Human Genetics. 27 (2018) 2 - p. 278-290 , 2018
Link:
https://doi.org/10.1038/s41431-018-0281-5
RT Journal T1
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41431-018-0281-5&Exemplar=1&LAN=DE A1 DDD study A1 Verheije, Rosalind A1 Kupchik, Gabriel S. A1 Isidor, Bertrand A1 Kroes, Hester Y. A1 Lynch, Sally Ann A1 Hawkes, Lara A1 Hempel, Maja A1 Gelb, Bruce D. A1 Ghoumid, Jamal A1 D'Amours, Guylaine A1 Chandler, Kate A1 Dubourg, Christèle A1 Loddo, Sara A1 Tümer, Zeynep A1 Shaw-Smith, Charles A1 Nizon, Mathilde A1 Shevell, Michael A1 Van Hoof, Evelien A1 Anyane-Yeboa, Kwame A1 Cerbone, Gaetana A1 Clayton-Smith, Jill A1 Cogné, Benjamin A1 Corre, Pierre A1 Corveleyn, Anniek A1 De Borre, Marie A1 Hjortshøj, Tina Duelund A1 Fradin, Mélanie A1 Gewillig, Marc A1 Goldmuntz, Elizabeth PB Springer Science and Business Media LLC YR 2018 SN 1018-4813 SN 1476-5438 JF European Journal of Human Genetics VO 27 IS 2 SP 278 OP 290 LK http://dx.doi.org/https://doi.org/10.1038/s41431-018-0281-5 DO https://doi.org/10.1038/s41431-018-0281-5 SF ELIB - SuUB Bremen
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