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1 Ergebnisse
1
RPGRIP1L mutations are mainly associated with the cerebello..:
Brancati F
;
Travaglini L
;
Zablocka D
...
info:eu-repo/semantics/altIdentifier/pmid/18565097. , 2008
Link:
http://hdl.handle.net/11392/533191
RT Journal T1
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
UL https://suche.suub.uni-bremen.de/peid=base-ftunivferrarair:oai:iris.unife.it:11392_533191&Exemplar=1&LAN=DE A1 Brancati F A1 Travaglini L A1 Zablocka D A1 Boltshauser E A1 Accorsi P A1 Montagna G A1 Silhavy JL A1 Barrano G A1 Bertini E A1 Emma F A1 Rigoli L A1 International JSRD Study Group A1 Dallapiccola B A1 Gleeson JG A1 Valente EM Collaborators Leventer R A1 Grattan Smith P A1 Janecke A A1 D'Hooghe M A1 Van Coster R A1 Dias K A1 Moco C A1 Moreira A A1 Kim CA A1 Maegawa G A1 Abdel Salam GM A1 Abdel Aleem A A1 Zaki MS A1 Marti I A1 Quijano Roy S A1 de Lonlay P A1 Romano S A1 Verloes A A1 Touraine R A1 Koenig M A1 Lagier Tourenne C A1 Messer J A1 Philippi H A1 Tzeli SK A1 Halldorsson S A1 Johannsdottir J A1 Ludvigsson P A1 Phadke SR A1 Stuart B A1 Magee A A1 Lev D A1 Michelson M A1 Ben Zeev B A1 Fischetto R A1 Gentile M A1 Battaglia S A1 Giordano L A1 Pinelli L A1 Boccone L A1 Ruggieri M A1 BIGONI, Stefania A1 FERLINI, Alessandra A1 Donati MA A1 Procopio E A1 Caridi G A1 Faravelli F A1 Ghiggeri G A1 Briuglia S A1 Salpietro CD A1 Tortorella G A1 D'Arrigo S A1 Pantaleoni C A1 Riva D A1 Uziel G A1 Laverda AM A1 Permunian A A1 Bova S A1 Battini R A1 Cilio MR A1 Di Sabato M A1 Leuzzi V A1 Parisi P A1 Simonati A A1 Al Tawari AA A1 Bastaki L A1 de Jong MM A1 Koul R A1 Rajab A A1 Azam M A1 Barbot C A1 Rodriguez B A1 Pascual Castroviejo I A1 Kayserili H A1 Comu S A1 Akcakus M A1 Al Gazali L A1 Sztriha L A1 Nicholl D A1 Woods CG A1 Bennett C A1 Hurst J A1 Hennekam R A1 Lees M A1 Bernes S A1 Sanchez H A1 Clark AE A1 DeMarco E A1 Donahue C A1 Sherr E A1 Hahn J A1 Sanger TD A1 Gallager TE A1 Dobyns WB A1 Daugherty C A1 Krishnamoorthy KS A1 Sarco D A1 Walsh CA A1 McKanna T A1 Milisa J A1 Chung WK A1 De Vivo DC A1 Raynes H A1 Schubert R A1 Seward A A1 Brooks DG A1 Goldstein A A1 Caldwell J A1 Finsecke E A1 Maria BL A1 Holden K A1 Cruse RP A1 Swoboda KJ A1 Viskochil D YR 2008 K1 Joubert syndrome-related disorder K1 molar tooth sign K1 nephronophthisi K1 RPGRIP1L JF info:eu-repo/semantics/altIdentifier/pmid/18565097 LK http://hdl.handle.net/11392/533191 DO http://hdl.handle.net/11392/533191 SF ELIB - SuUB Bremen
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