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Results: 1-4 |
Results: 4

Authors: Akizu, Naiara Silhavy, Jennifer L. Rosti, Rasim Ozgur
Citation: Akizu, Naiara et al., Mutations in CSPP1 Lead to Classical Joubert Syndrome, American journal of human genetics (Online) AJHG , 94(1), 2014, pp. 80-86

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: Radmanesh, Farid Caglayan, Ahmet Okay Silhavy, Jennifer L.
Citation: Radmanesh, Farid et al., Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities, American journal of human genetics (Online) AJHG , 92(3), 2013, pp. 468-474

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
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