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SUFU haploinsufficiency causes a recognisable neurodevelopm..:
Serpieri, Valentina
;
D'Abrusco, Fulvio
;
Dempsey, Jennifer C
...
Journal of Medical Genetics. 59 (2021) 9 - p. 888-894 , 2021
Link:
https://doi.org/10.1136/jmedgenet-2021-108114
RT Journal T1
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmedgenet-2021-108114&Exemplar=1&LAN=DE A1 Serpieri, Valentina A1 D'Abrusco, Fulvio A1 Dempsey, Jennifer C A1 Cheng, Yong-Han Hank A1 Arrigoni, Filippo A1 Baker, Janice A1 Battini, Roberta A1 Bertini, Enrico Silvio A1 Borgatti, Renato A1 Christman, Angela K A1 Curry, Cynthia A1 D'Arrigo, Stefano A1 Fluss, Joel A1 Freilinger, Michael A1 Gana, Simone A1 Ishak, Gisele E A1 Leuzzi, Vincenzo A1 Loucks, Hailey A1 Manti, Filippo A1 Mendelsohn, Nancy A1 Merlini, Laura A1 Miller, Caitlin V A1 Muhammad, Ansar A1 Nuovo, Sara A1 Romaniello, Romina A1 Schmidt, Wolfgang A1 Signorini, Sabrina A1 Siliquini, Sabrina A1 Szczałuba, Krzysztof A1 Vasco, Gessica PB BMJ YR 2021 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 59 IS 9 SP 888 OP 894 LK http://dx.doi.org/https://doi.org/10.1136/jmedgenet-2021-108114 DO https://doi.org/10.1136/jmedgenet-2021-108114 SF ELIB - SuUB Bremen
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