Results 131 to 140 of about 6,310 (174)

Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. [PDF]

Mol Syndromol
Aynekin B, Samur BM, Ozgul Gumus UG, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan AO, Per H.   +8 more
europepmc   +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

Joubert syndrome

, 2019
openaire   +1 more source

Joubert syndrome in a neonate: case report with literature review.

, 2016
Haifa Ali Bin Dahman, Abdul-Hakeem M Bin Mubaireek, Zain H. Alhaddad   +2 more
openalex   +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

In Response to the Article “Joubert Syndrome Imaging Features and Illustration of a Case”; Pol J Radiol, 2015; 80: 381–83

, 2015
Ankitkumar Patel
openalex   +1 more source

The G-domain of the Joubert syndrome protein ARL13B interacts with tubulin and contributes to uniform distribution along the cilium

, 2016
Ekaterina Revenkova, Luca Gusella, Carlo Iomini   +2 more
openalex   +1 more source

Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign. [PDF]

Ultrasound Obstet Gynecol
Pooh RK, Takeda M, Itoh K, Yoshimatsu J, Ogo K, Machida M, Ohashi H, Shimokawa O.   +7 more
europepmc   +1 more source

Aberrant activation of IL-6/JAK/STAT3/FOSL1 signaling induces renal abnormalities in a Xenopus model of Joubert syndrome-related disorders. [PDF]

J Biol Chem
Uuganbayar U, Ninomiya H, Shimada IS, Yamada C, Kanie M, Kawai S, Asai T, Miyoshi-Akiyama T, Itoh M, Hashimoto Y, Kato Y.   +10 more
europepmc   +1 more source

KIAA0586is Mutated in Joubert Syndrome

, 2015
Ruxandra Bachmann‐Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A. Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, Jay Shendure, Dan Doherty   +10 more
openalex   +1 more source