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2 research outputs found
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Author
Accorsi P
Barrano G
+13Â more
Bertini E
Boltshauser E
Brancati F
Dallapiccola B
Emma F
Gleeson J
Montagna G
Rigoli L
Silhavy J
The International JSRD Study Group
Travaglini L
Valente EM
Zablocka D
Publication venue
'Wiley'
Publication date
01/01/2008
Field of study
No full text
Archivio della Ricerca - UniversitĂ di Salerno
CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome Related Disorders.
Author
Al Gazali L
Amorini M
+32Â more
Barrano G
Bertini E
Bielas SL
Boltshauser E
Brancati F
Dallapiccola B
D’Hooghe M
Fazzi E
Fenerci EY
Gleeson JG
Hennekam RCM
Kayserili H
Kiss A
Lees MM
Marco E
Marsh SE
Phadke SR
Rigoli L
Romano S
Salpietro SD
Sherr EH
Signorini S
Silhavy JL
Stromme P
Stuart B
Sztriha L
The International JSRD Study Group
Travaglini L
VALENTE Enza Maria
Viskochil DH
Yuksel A
Zablocka D
Publication venue
'University of Chicago Press'
Publication date
01/01/2007
Field of study
No full text
Catalogo dei prodotti della ricerca
Archivio della Ricerca - UniversitĂ di Salerno
No full text
