Results 181 to 190 of about 20,451 (238)

A Better Understanding of Joubert Syndrome [PDF]

Journal of Child Neurology, 1999
openaire   +3 more sources

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case. [PDF]

Cureus
Castellano C, Gomez Rosado JO, Witt A, Simon R, Esharif D.   +4 more
europepmc   +1 more source

Novel variants identified in five Chinese families with Joubert Syndrome: a case report. [PDF]

BMC Med Genomics, 2023
Fang L, Wang L, Yang L, Xu X, Pei S, Wu.
europepmc   +1 more source

Retraction notice to "Prenatal Diagnosis of Joubert Syndrome: A case report" [Radiol. Case Rep. 19/10 (October 2024) 4369-4374]. [PDF]

Radiol Case Rep
Yen VTH.
europepmc   +1 more source

Abnormal glycosylation in Joubert syndrome type 10 [PDF]

, 2017

core   +1 more source

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations. [PDF]

Ther Adv Respir Dis
Ju-Wang JD, Dempsey JC, Zhang C, Doherty D, Witmans M, Tablizo MA, Chen ML.   +6 more
europepmc   +1 more source

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

, 2013
Sebiha Cevik, Anna A. W. M. Sanders, Erwin van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I. Kaplan, Sylvia E. C. van Beersum, Ka Man Wu, Stef J.F. Letteboer, Dorus A. Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E. Blacque   +22 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

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 G. Miles, John A. Sayer   +9 more
openalex   +1 more source

Joubert syndrome

, 2020
openaire   +1 more source