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EP18.48: A novel splicing variant of CC2D2A gene causes Joubert syndrome.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 294, doi. 10.1002/uog.28783
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- Publication type:
- Article
EP18.45: Prenatal diagnosis, phenotype expansion and genetic analysis of Joubert syndrome with new MKS1 mutation.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 293, doi. 10.1002/uog.28780
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- Publication type:
- Article
Dandy-Walker malformation and psychotic disorder. Review in accordance with a clinical case.
- Published in:
- 2024
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- Publication type:
- Abstract
Tectocerebellar dysraphia and occipital encephalocele associated with trisomy X: case report and review of the literature.
- Published in:
- 2021
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- Publication type:
- Case Study
Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.
- Published in:
- Child's Nervous System, 2019, v. 35, n. 7, p. 1257, doi. 10.1007/s00381-019-04048-9
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- Publication type:
- Article
Late-onset hydrocephalus in a child with Joubert syndrome: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study
An unusual association of classical Joubert syndrome with retrocerebellar arachnoid cyst.
- Published in:
- 2016
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- Publication type:
- Letter
Rehabilitation of a 15-month-old child with orofaciodigital syndrome type VI, joubert syndrome.
- Published in:
- Indian Journal of Physical Therapy & Research, 2023, v. 5, n. 2, p. 203, doi. 10.4103/ijptr.ijptr_187_23
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- Publication type:
- Article
Prenatal Diagnosis of Joubert Syndrome With Whole Exome Sequencing.
- Published in:
- Jinekoloji-Obstetrik & Neonatoloji Tip Dergisi, 2022, v. 19, n. 2, p. 1331, doi. 10.38136/jgon.852602
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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
PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 2, p. 312, doi. 10.3390/cells12020312
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- Publication type:
- Article
VP26.04: Cerebellar malformations: prenatal findings, postnatal outcomes in a single centre institution.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 170, doi. 10.1002/uog.22740
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- Publication type:
- Article
VP25.20: Molar tooth dysplasias in the fetus: differential diagnosis with vermian anomalies from distinct origin.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 166, doi. 10.1002/uog.22731
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- Publication type:
- Article
EP06.06: Antenatal diagnosis of Joubert syndrome: rare case report.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 262, doi. 10.1002/uog.21206
- Publication type:
- Article
EP06.05: It is possible to diagnose Joubert syndrome with prenatal sonographic "molar tooth sign".
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 262, doi. 10.1002/uog.21205
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- Publication type:
- Article
EP04.14: Utility of whole‐exome sequencing for genetic diagnosis of continuous fetuses with similar sonographic abnormalities in two pedigrees.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 252, doi. 10.1002/uog.21169
- Publication type:
- Article
P18.01: Joubert syndrome at 11–13 weeks: molar tooth sign and associated brain anomalies.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 213, doi. 10.1002/uog.21051
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- Publication type:
- Article
P05.03: Antenatal sonographic and genetic diagnosis of two cases of Bardet‐Biedl syndrome.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 168, doi. 10.1002/uog.20915
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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
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 2, p. 113, doi. 10.1038/jhg.2012.117
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- Publication type:
- Article
Nephronophthisis: a pathological and genetic perspective.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 7, p. 1977, doi. 10.1007/s00467-023-06174-8
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- Publication type:
- Article
When is biopsy-proven TIN not simply TIN? Questions.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 6, p. 975, doi. 10.1007/s00467-016-3465-7
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- Publication type:
- Article
When is biopsy-proven TIN not simply TIN? Answers.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 6, p. 977, doi. 10.1007/s00467-016-3478-2
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- Publication type:
- Article
Joubert Syndrome Presenting With Normal Pyramidal Decussation: A Case Report.
- Published in:
- Annals of Rehabilitation Medicine, 2017, v. 41, n. 4, p. 701, doi. 10.5535/arm.2017.41.4.701
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- Publication type:
- Article
Anesthetic considerations of Joubert syndrome in patients with mitochondrial disease - A case report -.
- Published in:
- Anesthesia & Pain Medicine, 2021, v. 16, n. 2, p. 158, doi. 10.17085/apm.20091
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- Publication type:
- Article
Joubert syndrome.
- Published in:
- Nursing Children & Young People, 2017, v. 29, n. 5, p. 15, doi. 10.7748/ncyp.29.5.15.s19
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- Publication type:
- Article
Total Intravenous Anesthesia in Joubert Syndrome Patient for Otorhinolaryngology Surgery: A Case Report and Mini Review of the Literature.
- Published in:
- American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.923018
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- Publication type:
- Article
Joubert Syndrome: Reports of Two Cases.
- Published in:
- 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
A child with Joubert syndrome: Clinical and imaging features.
- Published in:
- Journal of Ophthalmic & Vision Research, 2019, v. 14, n. 2, p. 229, doi. 10.4103/jovr.jovr_183_17
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- Publication type:
- Article
Recurrent Respiratory Tract Infection in an infant: Early Diagnosis by Clinical and Radiological Pearls.
- Published in:
- Journal of Nepal Paediatric Society, 2021, v. 41, n. 1, p. 111, doi. 10.3126/jnps.v41i1.30250
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- Publication type:
- Article
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
- Published in:
- Public Health Genomics, 2017, v. 20, n. 3, p. 188, doi. 10.1159/000477560
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- Publication type:
- Article
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
- Published in:
- Public Health Genomics, 2017, v. 20, n. 2, p. 188, doi. 10.1159/000477560
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- Publication type:
- Article
Early Postnatal Genetic Diagnosis for Joubert Syndrome Type 14.
- Published in:
- Malta Medical Journal, 2023, v. 35, n. 2, p. 78
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- Publication type:
- Article
Isolated Bilateral Rocker Bottom Feet Associated With 2q13 Microdeletion.
- Published in:
- Journal of Ultrasound in Medicine, 2020, v. 39, n. 3, p. 637, doi. 10.1002/jum.15132
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- Publication type:
- Article
Phenotypic manifestations of C5orf42 pathogenic variants.
- Published in:
- Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2022, v. 71, n. 1, p. 39, doi. 10.37897/RJP.2022.1.8
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- Publication type:
- Article
Loss of Ahil Affects Early Development by Impairing BM88/Cendl-Mediated Neuronal Differentiation.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 19, p. 8172, doi. 10.1523/JNEUROSCI.0119-13.2013
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- Publication type:
- Article
Anesthetic management of patients with Joubert syndrome: a retrospective analysis of a single-institutional case series.
- Published in:
- Pediatric Anesthesia, 2014, v. 24, n. 11, p. 1180, doi. 10.1111/pan.12472
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- Publication type:
- Article
Síndrome de Joubert-Boltshauser con asociación a malformación Dandy- Walker. Reporte de dos casos.
- Published in:
- Revista Mexicana de Neurociencia, 2014, v. 15, n. 2, p. 112
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- Publication type:
- Article
The Shepherd's Crook Sign: A New Neuroimaging Pareidolia in Joubert Syndrome.
- Published in:
- Journal of Neuroimaging, 2015, v. 25, n. 3, p. 510, doi. 10.1111/jon.12159
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- Publication type:
- Article
Endocrine manifestations in Joubert syndrome--literature review.
- Published in:
- AIMS Medical Science, 2023, v. 10, n. 4, p. 343, doi. 10.3934/medsci.2023027
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- Publication type:
- Article
Joubert Syndrome with a Rare Finding of Pathological Mandibular Angle Fracture.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
MOLAR TOOTH SIGN.
- Published in:
- Pediatric Oncall Journal, 2020, v. 17, n. 1, p. 28, doi. 10.7199/ped.oncall.2020.6
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- Publication type:
- Article
The use of modern ultrasound tridimensional techniques for the evaluation of fetal cerebral midline structures -- a practical approach.
- Published in:
- Medical Ultrasonography, 2015, v. 17, n. 2, p. 235, doi. 10.11152/mu.2013.2066.172.dm1
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- Publication type:
- Article
Tectonic gene mutations in patients with Joubert syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 616, doi. 10.1038/ejhg.2014.160
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- Publication type:
- Article
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 621, doi. 10.1038/ejhg.2014.156
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- Publication type:
- Article
Clinical utility gene card for: Joubert Syndrome - update 2013.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2013.10
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- Publication type:
- Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1074, doi. 10.1038/ejhg.2012.305
- By:
- Publication type:
- Article
Bipolar disorder with intellectual disability in Joubert syndrome: A case report.
- Published in:
- Psychiatry & Clinical Neurosciences, 2019, v. 73, n. 12, p. 761, doi. 10.1111/pcn.12937
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- Publication type:
- Article