Results 151 to 160 of about 20,451 (238)

Genetic complexity in Joubert syndrome and related disorders

, 2007
Peter C. Harris
openalex   +1 more source

Sonographic ‘molar tooth’ sign in the diagnosis of Joubert syndrome [PDF]

, 2011
D. Pugash, T. E. Oh, Kendra Godwin, Ashley Robinson, Angela Byrne, M. I. Van Allen, Horacio Osiovich   +6 more
openalex   +1 more source

CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

, 2007
Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson   +32 more
openalex   +1 more source

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

, 2017
Ackroyd, Ackroyd, Assadi, Barone, Beltran-Valero de Bernabe, Bielle, Booler, Borrell, Bouchet, Brockington, Buysse, Carss, Copp, Devisme, Dobyns, Ervasti, Gee, Halfter, Hartfuss, Hirotsune, Hong, Hu, Hu, Kranz, Lefeber, Lefeber, Longman, Manzini, Meyer, Montagnani, Moore, Moore, Myshrall, Radner, Reiner, Rice, Roscioli, Satz, Shaheen, Siegenthaler, Stevens, Sugita, Takiguchi-Hayashi, Toda, van Reeuwijk, Vuillaumier-Barrot, Willer, Yang, Yeo, Yoshida, Yoshida-Moriguchi, Yurchenco   +51 more
core   +2 more sources

Analysis of CT and MRI Manifestations of Joubert Syndrome. [PDF]

J Belg Soc Radiol, 2023
Liao DW, Zheng X.
europepmc   +1 more source

Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -

, 2007
Jung Tae Kim∥, Sun Jun Kim, Chan-Uhng Joo, Soo Chul Cho, Dae-Youl Lee   +4 more
openalex   +1 more source

NGAL as an Early Biomarker of Kidney Disease in Joubert Syndrome: Three Brothers Compared [PDF]

, 2012
Antonio Lacquaniti, Valeria Chirico, Valentina Donato, Silvana Briuglia, Valeria Cernaro, Romina Gallizzi, Carmelo Salpietro, Michele Buemi   +7 more
openalex   +1 more source

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

Pharmacogenomics and Personalized Medicine
Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha ...
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY   +9 more
doaj  

TOPORS as a novel causal gene for Joubert syndrome. [PDF]

Am J Med Genet A, 2023
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H.   +7 more
europepmc   +1 more source

Joubert syndrome: congenital cerebellar ataxia with the molar tooth [PDF]

, 2013
Marta Romani, Alessia Micalizzi, Enza Maria Valente   +2 more
openalex   +1 more source