Citation: Baasanjav, Sevjidmaa et al., Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects, American journal of human genetics (Online) AJHG , 89(1), 2011, pp. 15-27
Authors:
Brancati, Francesco
Barrano, Giuseppe
Silhavy, Jennifer L.
Marsh, Sarah E.
Travaglini, Lorena
Bielas, Stephanie L.
Amorini, Maria
Zablocka, Dominika
Kayserili, Hulya
Al-Gazali, Lihadh
Bertini, Enrico
Boltshauser, Eugen
D'Hooghe, Marc
Fazzi, Elisa
Fenerci, Elif Y.
Hennekam, Raoul C.M.
Kiss, Andrea
Lees, Melissa M.
Marco, Elysa
Phadke, Shubha R.
Gleeson, Joseph G
Citation: Brancati, Francesco et al., CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome.Related Disorders, American journal of human genetics , 81(1), 2007, pp. 104-113
Authors:
Dixon-Salazar, Tracy
Silhavy, Jennifer L.
Marsh, Sarah E.
Louie, Carrie M.
Scott, Lesley C.
Gururaj, Aithala
Al-Gazali, Lihadh
Al-Tawari, Asma A.
Kayserili, Hulya
Sztriha, László
Gleeson, Joseph G.
Citation: Dixon-salazar, Tracy et al., Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria, American journal of human genetics , 75(6), 2004, pp. 979-987