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Recurrent, founder and hypomorphic variants contribute to t..:
Serpieri, Valentina
;
Mortarini, Giulia
;
Loucks, Hailey
...
Journal of Medical Genetics. 60 (2023) 9 - p. 885-893 , 2023
Link:
https://doi.org/10.1136/jmg-2022-108725
RT Journal T1
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmg-2022-108725&Exemplar=1&LAN=DE A1 Serpieri, Valentina A1 Mortarini, Giulia A1 Loucks, Hailey A1 Biagini, Tommaso A1 Micalizzi, Alessia A1 Palmieri, Ilaria A1 Dempsey, Jennifer C A1 D'Abrusco, Fulvio A1 Mazzotta, Concetta A1 Battini, Roberta A1 Bertini, Enrico Silvio A1 Boltshauser, Eugen A1 Borgatti, Renato A1 Brockmann, Knut A1 D'Arrigo, Stefano A1 Nardocci, Nardo A1 Fischetto, Rita A1 Agolini, Emanuele A1 Novelli, Antonio A1 Romano, Alfonso A1 Romaniello, Romina A1 Stanzial, Franco A1 Signorini, Sabrina A1 Strisciuglio, Pietro A1 Gana, Simone A1 Mazza, Tommaso A1 Doherty, Dan A1 Valente, Enza Maria PB BMJ YR 2023 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 60 IS 9 SP 885 OP 893 LK http://dx.doi.org/https://doi.org/10.1136/jmg-2022-108725 DO https://doi.org/10.1136/jmg-2022-108725 SF ELIB - SuUB Bremen
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