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Browsing by Author Johnson, Colin
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Showing results 2 to 2 of 2
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Issue Date
Title
Author(s)
2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Travaglini, Lorena
;
Brancati, Francesco
;
Silhavy, Jennifer
;
Iannicelli, Miriam
;
Nickerson, Elizabeth
;
Elkhartoufi, Nadia
;
Scott, Eric
;
Spencer, Emily
;
Gabriel, Stacey
;
Thomas, Sophie
;
Ben-Zeev, Bruria
;
Bertini, Enrico
;
Boltshauser, Eugen
;
Chaouch, Malika
;
Cilio, Maria Roberta
;
Jong, Mirjam M. de
;
Kayserili, Hulya
;
Ogur, Gonul
;
Poretti, Andrea
;
Signorini, Sabrina
;
Uziel, Graziella
;
Zaki, Maha S.
;
Johnson, Colin
;
Attie ́-Bitach, Tania
;
Gleeson, Joseph G.
;
Valente, Enza Maria