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Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pat..:
Deciphering Developmental Disorders study
;
Broix, Loïc
;
Jagline, Hélène
...
Nature Genetics. 48 (2016) 11 - p. 1349-1358 , 2016
Link:
https://doi.org/10.1038/ng.3676
RT Journal T1
Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.3676&Exemplar=1&LAN=DE A1 Deciphering Developmental Disorders study A1 Broix, Loïc A1 Jagline, Hélène A1 L Ivanova, Ekaterina A1 Schmucker, Stéphane A1 Drouot, Nathalie A1 Clayton-Smith, Jill A1 Pagnamenta, Alistair T A1 Metcalfe, Kay A A1 Isidor, Bertrand A1 Louvier, Ulrike Walther A1 Poduri, Annapurna A1 Taylor, Jenny C A1 Tilly, Peggy A1 Poirier, Karine A1 Saillour, Yoann A1 Lebrun, Nicolas A1 Stemmelen, Tristan A1 Rudolf, Gabrielle A1 Muraca, Giuseppe A1 Saintpierre, Benjamin A1 Elmorjani, Adrienne A1 Moïse, Martin A1 Weirauch, Nathalie Bednarek A1 Guerrini, Renzo A1 Boland, Anne A1 Olaso, Robert A1 Masson, Cecile A1 Tripathy, Ratna A1 Keays, David PB Springer Science and Business Media LLC YR 2016 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 48 IS 11 SP 1349 OP 1358 LK http://dx.doi.org/https://doi.org/10.1038/ng.3676 DO https://doi.org/10.1038/ng.3676 SF ELIB - SuUB Bremen
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