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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: exp..:
Romani, Marta
;
Micalizzi, Alessia
;
Kraoua, Ichraf
...
info:eu-repo/semantics/altIdentifier/pmid/24886560. , 2014
Link:
http://hdl.handle.net/11562/933382
RT Journal T1
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftunivveronairis:oai:iris.univr.it:11562_933382&Exemplar=1&LAN=DE A1 Romani, Marta A1 Micalizzi, Alessia A1 Kraoua, Ichraf A1 Dotti, Maria Teresa A1 Cavallin, Mara A1 Sztriha, László A1 Ruta, Rosario A1 Mancini, Francesca A1 Mazza, Tommaso A1 Castellana, Stefano A1 Hanene, Benrhouma A1 Carluccio, Maria Alessandra A1 Máté, Adrienn A1 Zimmermann, Alíz A1 Gouider Khouja, Neziha A1 Valente, Enza Maria A1 DARRA, Francesca YR 2014 K1 Abnormalities K1 Multiple K1 Adult K1 Cerebellar Disease K1 Cerebellum K1 Child K1 Preschool K1 Ciliary Motility Disorder K1 Encephalocele K1 Eye Abnormalitie K1 Female K1 Human K1 Kidney Diseases K1 Cystic K1 Magnetic Resonance Imaging K1 Male K1 Polycystic Kidney Disease K1 Protein K1 Retina K1 Severity of Illness Index K1 Mutation JF info:eu-repo/semantics/altIdentifier/pmid/24886560 LK http://hdl.handle.net/11562/933382 DO http://hdl.handle.net/11562/933382 SF ELIB - SuUB Bremen
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