Results 141 to 150 of about 2,477,262 (230)

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

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

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

Prospective Evaluation of Kidney Disease in Joubert Syndrome [PDF]

Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associatedwith.30 genes.The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a largecohort at a single center.Design ...
Daryanani K, Choyke P, Fischer R, Sayer JA, Gahl WA, Fleming LR, Doherty DA, Bryant J, Turkbey B, Vemulapalli M, Malicdan MC, Parisi MA, Vilboux T, Mullikin JC, Glass IA, Gunay-Aygun M   +15 more
core  

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

Congenital Ocular Motor Apraxia as the First Sign of Joubert Syndrome: A Case Report. [PDF]

Cureus
Ito M, Koiwa C, Negishi T, Sawada D, Nakao S.   +4 more
europepmc   +1 more source

Joubert syndrome gene <i>fam149b1</i> homolog, <i>xbx-4</i> , is required for multiple sensory behaviors. [PDF]

MicroPubl Biol
Ching K, Sternberg PW, Barr MM.
europepmc   +1 more source

Joubert syndrome 26 protein enforces compartmentalized motility of a ciliary kinesin. [PDF]

Proc Natl Acad Sci U S A
Wang S, Li M, Chen G, Chen Z, Lei K, Ökten Z, Xie S, Zhou T, Li W, Ou G.   +9 more
europepmc   +1 more source