Results 201 to 210 of about 2,206,324 (288)

Joubert syndrome

, 2012
Mostafa El-Feky, Maxime St-Amant
openaire   +3 more sources

A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome. [PDF]

Cureus, 2023
Hussein MLM, Kolleri JJ, Al Sharani SA, Thabet AMJ, Twair A.   +4 more
europepmc   +1 more source

Joubert syndrome: congenital cerebellar ataxia with the molar tooth [PDF]

, 2013
Marta Romani, Alessia Micalizzi, Enza Maria Valente   +2 more
openalex   +1 more source

Diagnosis and Genetic Counseling Before and After the Birth of Children With Joubert Syndrome and Beckwith-Wiedemann Syndrome. [PDF]

Cureus
Hasegawa Y, Miura S, Kagami M, Dateki S, Miura K.   +4 more
europepmc   +1 more source

Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy. [PDF]

Glob Med Genet, 2023
Sreedevi N, Swapna N, Maruthy S, Jayakumar T, Sylvester C.   +4 more
europepmc   +1 more source

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects [PDF]

, 2013
Zakia A. Abdelhamed, Gabrielle Wheway, Katarzyna Szymańska, Subaashini Natarajan, Carmel Toomes, Chris F. Inglehearn, Colin A. Johnson   +6 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

Eye Movement Abnormalities in Joubert Syndrome

, 2009
Avery H. Weiss, Dan Doherty, Melissa A. Parisi, Dennis Shaw, Ian Glass, James O. Phillips   +5 more
openalex   +1 more source

Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene

American Journal of Ophthalmology Case Reports
Purpose: To describe unique ocular features in a child with Joubert syndrome type 6. Observations: A 4-year-old male patient presented with right microphthalmia and non-dilating pupil and left primary position nystagmus. Brain MRI revealed a “molar tooth
Maram EA Abdalla Elsayed, Syed M. Ali, Carly Gardner, Igor Kozak   +3 more
doaj  

Preoperative Nasobiliary Drainage as a Predictor of Response Before Surgical Fistula Creation in Joubert Syndrome With Refractory Cholestatic Pruritis. [PDF]

ACG Case Rep J, 2023
Biermann M, Sundar PR, Veeramachaneni H, Willingham F.   +3 more
europepmc   +1 more source