Results 111 to 120 of about 6,310 (174)

TOPORS as a novel causal gene for Joubert syndrome. [PDF]

Am J Med Genet A, 2023
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H.   +7 more
europepmc   +1 more source

Successful Respiratory Management Using Synchronized Nasal Intermittent Positive Pressure Ventilation for Abnormal Breath Patterns Associated With Joubert Syndrome. [PDF]

Cureus
Managi A, Zuiki M, Mitsuno R, Ichise E, Iehara T.   +4 more
europepmc   +1 more source

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. [PDF]

BMJ Case Rep
Kumasaka I, Takushi H, Watanabe T, Ota C.   +3 more
europepmc   +1 more source

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report. [PDF]

Medicine (Baltimore), 2023
Duque-Cordoba PA, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H.   +3 more
europepmc   +1 more source

Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges. [PDF]

Clin Case Rep
Ahmed AAE, Ahmed MMB, Ibrahim AGA, Aref AMA, Saidahmed TMA, Abd Elaziz OEO, Neel ZAA, Alkarar MMA, Altegani TMN, Mohammed AAA, Amin MHJ.   +10 more
europepmc   +1 more source

Capillary Hemangioma in Joubert Syndrome: A Case Report. [PDF]

Cureus, 2023
Nassim HM, Alabdulqader RA, Najmi H, Alsawadi HM, Alotaibi HA.   +4 more
europepmc   +1 more source

Expansion of the Genotypic and Phenotypic Spectrum of <i>TCTN3</i>-Related Joubert Syndrome. [PDF]

Genes (Basel)
Lo Giudice M, Borgione E, Giuliano M, Santa Paola S, Di Blasi FD, Pettinato R, Romano C, Scuderi C.   +7 more
europepmc   +1 more source

Retinal Degeneration and Failure of Photoreceptor Outer Segment Formation in Mice with Targeted Deletion of the Joubert Syndrome Gene, Ahi1 [PDF]

, 2010
Jennifer Westfall, Clifford Hoyt, Q. Liu, Yen‐Chang Hsiao, Eric A. Pierce, Patrick Page-McCaw, Russell J. Ferland   +6 more
openalex   +1 more source

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement. [PDF]

BMC Pediatr, 2023
Li Q, Liu Q, Liu S, Yu L, Yang Z, Wang C, Wang J, Sun S.   +7 more
europepmc   +1 more source

The management of Joubert Syndrome in Physical Medicine and Rehabilitation department

, 2016
Mouna Sghir, Aymen Haj Salah, E. Toulgui, Mariem Rekik, Saida jerbi, W. Kessomtini   +5 more
openalex   +1 more source