Results 231 to 240 of about 2,206,324 (288)

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies [PDF]

, 2017
Shalabh Srivastava, Simon A. Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, C. Henry, Sophie Saunier, Colin Miles, John A. Sayer   +9 more
openalex   +1 more source

Joubert syndrome presenting bilateral peroneal neuropathies: A case report. [PDF]

Medicine (Baltimore)
Kim HM, Jo HS, Han JY, Choi IS, Song MK, Park HK.   +5 more
europepmc   +1 more source

Molar Tooth Sign in an Ischemic Stroke Patient: Could It Be Asymptomatic Joubert Syndrome?

, 2014
Ersin Kasım Ulusoy, Şule Bilen, Fikri Ak   +2 more
openalex   +2 more sources

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center [PDF]

, 2017
Angela C. Summers, Joseph Snow, Edythe Wiggs, Alexander Liu, Camilo Toro, Andrea Poretti, Wadih M. Zein, Brian P. Brooks, Melissa A. Parisi, Sara K. Inati, Dan Doherty, Meghana Vemulapalli, Jim Mullikin, Thierry Vilboux, William A. Gahl, Meral Gunay‐Aygun   +15 more
openalex   +1 more source

Prenatal diagnosis of Joubert syndrome: A case report.

Radiol Case Rep
Yen VTH.
europepmc   +1 more source

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene. [PDF]

Am J Ophthalmol Case Rep
Elsayed MEA, Ali SM, Gardner C, Kozak I.
europepmc   +1 more source

Zfp423, a Joubert syndrome gene, is a domain-specific regulator of cell cycle progression, DNA damage response and Purkinje cell development in the cerebellar primordium [PDF]

, 2017
Filippo Casonil, Laura Crocil, Camilla Bosonel, Roberta D’Ambrosio, Aurora Badaloni, Davide Gaudesi, Valeria Barilil, Justyna R. Sarna, Lino Tessarollo, Ottavio Cremona, Richard Hawkes, Søren Warming, G. Giacomo Consalez   +12 more
openalex   +1 more source

Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report [PDF]

, 2017
Nam-Sik Kim, Sung-Hee Park
openalex   +1 more source

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family. [PDF]

Front Genet
Fang X, Ma M, Rong W, Lian YY, Wu X, Gao Y, Li HP, Sheng X.   +7 more
europepmc   +1 more source

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, Mohamad 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