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Unilateral, frontal polymicrogyria and supratentorial white matter microcysts in fetus with Joubert syndrome and related disorders: Prenatal diagnosis with magnetic resonance imaging.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 10, p. 1093, doi. 10.2298/VSP180906173K
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- Article
A Report on Children with CEP290 Mutation, Vision Loss, and Developmental Delay.
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- Beyoglu Eye Journal, 2023, v. 8, n. 3, p. 226, doi. 10.14744/bej.2023.37233
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- Publication type:
- Article
Improving ultrasound imaging for posterior fossa cystic lesions.
- Published in:
- 2021
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- Publication type:
- journal article
Mirror Movements of the Left Hand in a Patient with Joubert Syndrome.
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- Movement Disorders Clinical Practice, 2021, v. 8, n. 6, p. 959, doi. 10.1002/mdc3.13256
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- Publication type:
- Article
Disabling Myoclonus in a Case of Joubert Syndrome.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 4, p. 456, doi. 10.1002/mdc3.12933
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- Publication type:
- Article
Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 1, p. 104, doi. 10.1002/mdc3.12872
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- Publication type:
- Article
Cerebellar vermis: a vulnerable location of remote brain haemorrhages after thrombolysis for ischaemic stroke.
- Published in:
- 2017
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- Publication type:
- journal article
Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture.
- Published in:
- 2021
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- Publication type:
- Case Study
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.738157
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- Publication type:
- Article
Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.
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- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.576235
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- Article
فتوکلینیک.
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- 2016
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- Publication type:
- Case Study
Joubert Syndrome: Reports of Two Cases.
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- Journal of Bangladesh College of Physicians & Surgeons, 2021, v. 39, n. 2, p. 132, doi. 10.3329/jbcps.v39i2.52393
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- Publication type:
- Article
Molecular genetic analysis of 30 families with Joubert syndrome.
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- Clinical Genetics, 2016, v. 90, n. 6, p. 526, doi. 10.1111/cge.12836
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- Publication type:
- Article
A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.
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- Clinical Genetics, 2016, v. 89, n. 6, p. 739, doi. 10.1111/cge.12752
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- Publication type:
- Article
Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (CEP290) Result in Classic Joubert Syndrome.
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- Journal of Child Neurology, 2015, v. 30, n. 6, p. 772, doi. 10.1177/0883073814535488
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- Article
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
- Published in:
- 2016
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- Publication type:
- journal article
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-72
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- Publication type:
- Article
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 27, doi. 10.1186/1750-1172-7-27
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- Publication type:
- Article
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome.
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- Journal of Pathology, 2019, v. 248, n. 4, p. 393, doi. 10.1002/path.5291
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- Publication type:
- Article
Mice with a conditional deletion of Talpid3 (KIAA0586) – a model for Joubert syndrome.
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- Journal of Pathology, 2019, v. 248, n. 4, p. 396, doi. 10.1002/path.5271
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- Publication type:
- Article
Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 2, p. 1273, doi. 10.3390/ijms24021273
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- Publication type:
- Article
Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9707, doi. 10.3390/ijms23179707
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- Publication type:
- Article
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.
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- Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4525, doi. 10.1172/JCI69448
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- Publication type:
- Article
The Use of an iPad2 as a Leisure Activity for a Student with Multiple Disabilities.
- Published in:
- 2013
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- Publication type:
- Case Study
Decaying molar tooth sign in Joubert syndrome and related disorders is correlated to a displacement of the corticospinal tract.
- Published in:
- 2017
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- Publication type:
- Letter
Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules.
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- Experimental Brain Research, 2024, v. 242, n. 3, p. 619, doi. 10.1007/s00221-023-06762-y
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- Publication type:
- Article
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
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- Cell & Tissue Research, 2024, v. 396, n. 2, p. 255, doi. 10.1007/s00441-024-03876-9
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- Publication type:
- Article
Structural insights into the small G-protein Arl13B and implications for Joubert syndrome.
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- Biochemical Journal, 2014, v. 457, n. 2, p. 301, doi. 10.1042/BJ20131097
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- Publication type:
- Article
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
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- Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
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- Publication type:
- Article
Joubert Sendromunda Klinik ve Radyolojik Bulgular: Olgu Sunumu.
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- European Journal of Research in Dentistry, 2023, v. 7, n. 2, p. 95, doi. 10.29228/erd.51
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- Publication type:
- Article
The Shepherd's Crook Sign: A New Neuroimaging Pareidolia in Joubert Syndrome.
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- Journal of Neuroimaging, 2015, v. 25, n. 3, p. 510, doi. 10.1111/jon.12159
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- Publication type:
- Article
Dandy-Walker malformation and psychotic disorder. Review in accordance with a clinical case.
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- 2024
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- Publication type:
- Abstract
Psychotic disorder concurrent with dandy-walker malformation: case report.
- Published in:
- European Psychiatry, 2020, v. 63, p. S428
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- Publication type:
- Article
New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.
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- Cerebellum, 2024, v. 23, n. 2, p. 579, doi. 10.1007/s12311-023-01580-y
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- Publication type:
- Article
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
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- Cerebellum, 2022, v. 21, n. 6, p. 1144, doi. 10.1007/s12311-021-01350-8
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- Publication type:
- Article
Date-Independent Parameters: an Innovative Method to Assess Fetal Cerebellar Vermis.
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- Cerebellum, 2015, v. 14, n. 3, p. 231, doi. 10.1007/s12311-014-0632-x
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- Publication type:
- Article
Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood.
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- European Review for Medical & Pharmacological Sciences, 2015, v. 19, n. 12, p. 2297
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- Publication type:
- Article
Joubert syndrome with autism in two siblings: A rare presentation.
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- Indian Journal of Psychiatry, 2016, v. 58, n. 1, p. 90, doi. 10.4103/0019-5545.174395
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- Publication type:
- Article
A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.11859
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- Publication type:
- Article
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.06602
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- Publication type:
- Article
Compound heterozygous splicing variants in KIAA0586 cause fetal short‐rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 3, p. 1, doi. 10.1002/mgg3.2124
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- Publication type:
- Article
Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1877
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- Publication type:
- Article
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1603
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- Publication type:
- Article
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1682
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- Publication type:
- Article
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1004
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- Publication type:
- Article
Characterization of an Emirati TMEM138 mutation leading to Joubert syndrome.
- Published in:
- Pediatrics International, 2017, v. 59, n. 1, p. 113, doi. 10.1111/ped.13158
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- Publication type:
- Article
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32169-4
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- Publication type:
- Article
Joubert Syndrome (JS).
- Published in:
- Dialog: Journal of the Texas Educational Diagnosticians Association, 2016, v. 45, n. 1, p. 29
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- Publication type:
- Article
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 651, doi. 10.1038/jhg.2015.86
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- Publication type:
- Article
A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 2, p. 57, doi. 10.1038/jhg.2012.138
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- Publication type:
- Article