Results 171 to 180 of about 2,206,162 (231)

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

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

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

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity [PDF]

, 2017
Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann‐Gagescu   +6 more
openalex   +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

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

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

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

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

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. [PDF]

Biol Open
Noble AR, Masek M, Hofmann C, Cuoco A, Rusterholz TDS, Özkoc H, Greter NR, Phelps IG, Vladimirov N, Kollmorgen S, Stoeckli E, Bachmann-Gagescu R.   +11 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