Results 71 to 80 of about 5,402 (155)

Late Breaking Abstracts

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Development of end-stage renal disease at a young age in two cases with Joubert syndrome

The Turkish Journal of Pediatrics, 2014
Joubert syndrome (JS) is an autosomal recessive genetic disorder. To date, mutations in 20 genes of the genetically heterogeneous JS and JS-related disorders (JSRD) have been reported. Renal involvement occurs in 2-20% of JS cases.
Ferah Sönmez, Melike Güzünler-Şen, Dilek Yılmaz, Gamze Cömertpay, Marisol Heise, Sebahattin Çırak, Gökhan Uyanık   +6 more
doaj  

Case series: Joubert syndrome and eosinophilic esophagitis. [PDF]

JPGN Rep
Schening J, Leon-Paredes S, Chiou E, Szafron V, Olive A, Anvari S.   +5 more
europepmc   +1 more source

Comprehensive Rehabilitation in a Child with Joubert Syndrome: A Case Report. [PDF]

Prog Rehabil Med
Mathews E, Goyal V, Mhambre A, Gaur AK.
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

Pharmacogenomics and Personalized Medicine
Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha ...
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY   +9 more
doaj  

Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series. [PDF]

Brain Sci
Mański Ł, Moluszys A, Góra A, Wasilewska E, Rosa A, Szczałuba K, Szymańska K, Wierzba J.   +7 more
europepmc   +1 more source

Clinical, genetic and bioinformatic analysis of Saudi families with Joubert syndrome and related disorders. [PDF]

Hum Genomics
Alafghani R, Aljeaid D, Shaik NA, Banaganapalli B, Elango R, Khard G, Habab W, Jadkarim G, Alshaer DS, Almutadares M, Alrayes NM, Issa NM.   +11 more
europepmc   +1 more source

Case Report: A case of Joubert syndrome in twin pregnancy: MRI manifestations and literature review. [PDF]

Front Pediatr
Ren S, Li A, Yang J, Zhou L, Lu T.
europepmc   +1 more source

Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study. [PDF]

J Clin Med
Mański Ł, Moluszys A, Góra A, Wasilewska E, Rosa A, Szumlicki J, Szczałuba K, Szymańska K, Wierzba J.   +8 more
europepmc   +1 more source

Functional Motor Assessment and Rehabilitation in Joubert Syndrome: A Narrative Review and Conceptual Framework for Pediatric Neurorehabilitation. [PDF]

Children (Basel)
Mański Ł, Moluszys A, Wierzba J.
europepmc   +1 more source