Results 241 to 250 of about 2,206,324 (288)

Fetal Magnetic Resonance Imaging Demonstration Of Central Nervous System Abnormalities and Polydactyly Associated With Joubert Syndrome [PDF]

, 2010
Chen, Chen-Yu, Chen, Chih-Ping, Huang, Jian-Pei, Huang, Jon-Kway, Liu, Yu-Peng, Su, Yi-Ning, Tsai, Fuu-Jen, Wang, Wayseen, Wu, Pei-Chen, Yang, Chun-Kuang   +9 more
core   +2 more sources

CT and MR Imaging Findings in the Joubert Syndrome, a "Ciliopathy"

, 2015
Kaveh Akbari, Christine M. Fellner, Daniel Flöry, Franz A. Fellner   +3 more
openalex   +2 more sources

Dataset Supporting Publication Entitled: Kiaa0556 Is A Novel Ciliary Basal Body Component Mutated In Joubert Syndrome

, 2015
Awm Sanders, Erik de Vrieze, Anas M. Alazami, EB Malarkey, Stefanie Kuhns, BK Yoder, Erwin van Wijk, Fowzan S. Alkuraya, OE Blacque   +8 more
openalex   +2 more sources

Author response: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

, 2015
Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L. Silhavy, Rasim Özgür Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S. Zaki, Kathryn J. Swoboda, Joanne Milisa-Drautz, William B. Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose‐Mary Boustany, Carol L. Clericuzio, Stefano D’Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A. Johnson, Michael Freilinger, Keith K. Vaux, Stacey Gabriel, Pedro Aza‐Blanc, Susanne Heynen‐Genel, Trey Ideker, Brian David Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G. Gleeson   +43 more
openalex   +1 more source

Decision letter: Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

, 2015

openalex   +1 more source

The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane

, 2016
Wenyan Xu, Miaomiao Jin, Ruikun Hu, Hong Wang, Fan Zhang, Shiaulou Yuan, Ying Cao   +6 more
openalex   +1 more source

Novel CC2D2A compound heterozygous mutations cause Joubert syndrome

, 2016
Daimin Xiao, Chunli Lv, Zhimin Zhang, Mingsong Wu, Xiang Zheng, Lei Yang, Xueying Li, Guan Wu, Jindong Chen   +8 more
openalex   +2 more sources

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

Generation of iPSC line from a Joubert syndrome patient with compound heterozygous mutations in CPLANE1 gene.

Stem Cell Res
C M, V S, A O, S C, E R, F S, E M V.
europepmc   +1 more source

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Joubert Syndrome and Renal Implication

Journal of Pediatric Neurology, 2022
AbstractTwenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and occasional encephalocele.
Giovanni Conti, Giovanni Farello, Maria Domenica Ceravolo, Monica Fusco, Caterina Cuppari, Alessio Mancuso, Ida Ceravolo, Emanuele David, Giulia Iapadre, Giovanna Scorrano, Maria Francesca Fiorile, Roberto Chimenz   +11 more
openaire   +5 more sources