Results 111 to 120 of about 1,250,329 (187)

Screening for CDG type Ia in Joubert syndrome.

, 2004
Item does not contain fulltextBACKGROUND: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements.
Kosztolanyi, Gyorgy, Huijben, K.M., Kosztolanyi, G.Y., Cser, Beatrix, Szonyi, Laszlo, Wevers, Ron, Morava, Eva, Kárteszi, Judit, Cser, B., Morava, E., Karteszi, J., Huijben, Karin, Szonyi, L., Wevers, R.A.   +13 more
core  

Significance of Advocacy Group Meetings for Rare and Intractable Diseases: A Survey of Joubert Syndrome and Related Disorders in Japan. [PDF]

Prog Rehabil Med
Mano H, Kitamura K, Hakiri W, Shimizu K, Mano C.   +4 more
europepmc   +1 more source

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

Catalogue Célestin Joubert (1861-1934) éditeur. Verso Le violon brisé

, 1906
Catalogue Célestin Joubert (1861-1934) éditeur. Verso Le violon brisé (titre de 1885) - ré-édition par l'éditeur Joubert, successeur de Bathlot ; datation exemplaire (par catalogue) : 1906 (à confirmer)
Célestin Joubert (1861-1934) Éditeur, ., Daphy, Éliane   +1 more
core  

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, Habhab 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

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

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

Joubert syndrome

, 2010
openaire   +2 more sources