Results 101 to 110 of about 5,402 (155)

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

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

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

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

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]

Pharmgenomics Pers Med
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.   +9 more
europepmc   +1 more source

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report. [PDF]

Korean J Ophthalmol
Goh YH, Hwang S, Kim SJ.
europepmc   +1 more source

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

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

Prenatal diagnosis of Joubert syndrome: A case report.

Radiol Case Rep
Yen VTH.
europepmc   +1 more source