Results 201 to 210 of about 20,451 (238)

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

Joubert Syndrome Presenting With Levodopa-Responsive Parkinsonism. [PDF]

J Mov Disord
Hwangbo J, Park KS, Kim HS, Choi JH, Lee JH.   +4 more
europepmc   +1 more source

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

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]

Indian J Nephrol
Shankar M, Anusha V, Shetty A, Sreedhara CG, Vinay KS, Aralapuram K, Reddy GG.   +6 more
europepmc   +1 more source

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

Prenatal diagnosis of Joubert syndrome: A case report.

Radiol Case Rep
Yen VTH.
europepmc   +1 more source

Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review. [PDF]

Cureus
Alhashimi I, Zoghoul S, Khalil SK, Yousif ZB, Jumah A, Alkailani Y.   +5 more
europepmc   +1 more source

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

, 2015

openalex   +1 more source

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome. [PDF]

Int J Mol Sci
Deconte D, Diniz BL, Hartmann JK, de Souza MA, Zottis LFF, Zen PRG, Rosa RFM, Fiegenbaum M.   +7 more
europepmc   +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