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Articles (47)

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1-10 of 47 results for Joubert syndrome

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Select article: Joubert Syndrome Presenting With Young-Age Onset Ischemic Stroke: A Possible Etiologic Association

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First published 2011-3

Joubert Syndrome Presenting With Young-Age Onset Ischemic Stroke: A Possible Etiologic Association

Mi-Yeon Eun, Hung Youl Seok, Do-Young Kwon [...]

Journal of Child Neurology

Select article: Joubert Syndrome Associated with Total Corpus Callosum Agenesis

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Research article

First published 2006-2

Joubert Syndrome Associated with Total Corpus Callosum Agenesis

T. Asil, U. Utku, E. Unlu [...]

The Neuroradiology Journal

Select article: A variable presentation of Joubert syndrome: Case report and a brief review

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Case report

First published 2020-11-27

A variable presentation of Joubert syndrome: Case report and a brief review

S. Vinod, E. Ghaly, P. Cruz Soriano [...]

Journal of Neonatal-Perinatal Medicine

Select article: Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 ( CEP290 ) Result in Classic Joubert Syndrome

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Research article

First published 2015-5

Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 ( CEP290 ) Result in Classic Joubert Syndrome

Lixia Wang, Yun Yang, Jieping Song [...]

Journal of Child Neurology

Select article: Neuropathology of Joubert Syndrome

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First published 1999-10

Neuropathology of Joubert Syndrome

Anthony T. Yachnis, Lucy B. Rorke

Journal of Child Neurology

Select article: Neurobehavioral Development in Joubert Syndrome

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First published 1998-08

Neurobehavioral Development in Joubert Syndrome

Jill Gitten, Duane Dede, Eileen Fennell [...]

Journal of Child Neurology

Select article: The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Open access

Research article

First published 2019-07-04

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Melissa A. Parisi

Translational Science of Rare Diseases

Select article: Ocular and Oculomotor Signs in Joubert Syndrome

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First published 1999-10

Ocular and Oculomotor Signs in Joubert Syndrome

Ronald J. Tusa, Martin T. Hove

Journal of Child Neurology

Select article: Autism and Autistic Behavior in Joubert Syndrome

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First published 1999-10

Autism and Autistic Behavior in Joubert Syndrome

Sally Ozonoff, Brenda J. Williams, Susan Gale [...]

Journal of Child Neurology

Select article: Quantitative Assessment of Brainstem Development in Joubert Syndrome and Dandy-Walker Syndrome

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First published 2001-10

Quantitative Assessment of Brainstem Development in Joubert Syndrome and Dandy-Walker Syndrome

Bernard L. Maria, Alilreza Bozorgmanesh, Kimberly N. Kimmel [...]

Journal of Child Neurology

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