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Deregulated expression of EZH2 in congenital brainstem disconnection

Neuropathology and applied neurobiology, 2017-06, Vol.43 (4), p.358-365

2017

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Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

Clinical genetics, 2017-05, Vol.91 (5), p.697-707

2017

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OC21.02: Brainstem malformations in severe fetal ventriculomegaly

Ultrasound in obstetrics & gynecology, 2018-10, Vol.52 (S1), p.50-50

2018

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Transfontanellar duplex brain ultrasonography resistive indices as a prognostic tool in neonatal hypoxic-ischemic encephalopathy before and after treatment with therapeutic hypothermia

Journal of perinatology, 2016-03, Vol.36 (3), p.202-206

2016

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OP14.11: Prenatal diagnosis of medullary tegmental cap dysplasia: a rare disorder of axonal guidance

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.95-95

2017

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A novel in-frame deletion of OPHN1 in a family with syndromic X-linked mental retardation

European journal of paediatric neurology, 2017-06, Vol.21, p.e53-e53

2017

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Congenital Brain Anomalies

American journal of neuroradiology : AJNR, 2011-10, Vol.32 (Supplement 10), p.S3-S3

2011

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Ophthalmological findings in Joubert syndrome

Eye (London), 2010-02, Vol.24 (2), p.222-225

2010

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Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI

American journal of neuroradiology : AJNR, 2008-06, Vol.29 (6), p.1090-1091

2008

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OC06.02: Prenatal diagnosis of brainstem anomalies: phenotypic spectrum and neuroimaging features

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.11-11

2017

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Benign frontal horn cysts in a preterm neonate

Journal of perinatology, 2014-06, Vol.34 (6), p.488-488

2014

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Long-Term Follow-up Results of the DANTE Trial, a Randomized Study of Lung Cancer Screening with Spiral Computed Tomography

American journal of respiratory and critical care medicine, 2015-05, Vol.191 (10), p.1166-1175

2015

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Neonatal neuroimaging findings in congenital myotonic dystrophy

Journal of perinatology, 2014-02, Vol.34 (2), p.159-160

2014

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Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

European journal of paediatric neurology, 2017-06, Vol.21, p.e124-e125

2017

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Clinical, radiological and genetic characterization of PLA2G6-associated neurodegeneration

European journal of paediatric neurology, 2017-06, Vol.21, p.e176-e177

2017

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Outcome in children with brain tumours diagnosed in the first year of life: long-term complications and quality of life

Archives of disease in childhood, 2008-07, Vol.93 (7), p.582-589

2008

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Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

American journal of neuroradiology : AJNR, 2011-09, Vol.32 (8), p.1459-1463

2011

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Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum?

Neuropediatrics, 2011-08, Vol.42 (4), p.170

2011

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Brainstem disconnection: case report and review of the literature

Neuropediatrics, 2007-08, Vol.38 (4), p.210

2007

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A Randomized Study of Lung Cancer Screening with Spiral Computed Tomography: Three-year Results from the DANTE Trial

American journal of respiratory and critical care medicine, 2009-09, Vol.180 (5), p.445-453

2009

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Neonatal Head and Spine Ultrasonography

1, 2015

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Pontine tegmental cap dysplasia: the severe end of the clinical spectrum

Neuropediatrics, 2009-02, Vol.40 (1), p.43

2009

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Prenatal MR diffusion tractography in a fetus with complete corpus callosum agenesis

Neuropediatrics, 2011-06, Vol.42 (3), p.122

2011

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Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging

Neuropediatrics, 2011-04, Vol.42 (2), p.82

2011

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Normal cognitive functions in joubert syndrome

Neuropediatrics, 2009-12, Vol.40 (6), p.287

2009

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Deregulated expression of EZH2 in congenital brainstem disconnection

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features

OC21.02: Brainstem malformations in severe fetal ventriculomegaly

Transfontanellar duplex brain ultrasonography resistive indices as a prognostic tool in neonatal hypoxic-ischemic encephalopathy before and after treatment with therapeutic hypothermia

OP14.11: Prenatal diagnosis of medullary tegmental cap dysplasia: a rare disorder of axonal guidance

A novel in-frame deletion of OPHN1 in a family with syndromic X-linked mental retardation

Congenital Brain Anomalies

Ophthalmological findings in Joubert syndrome

Prenatal and Neonatal MR Imaging Findings in Oral-Facial-Digital Syndrome Type VI

OC06.02: Prenatal diagnosis of brainstem anomalies: phenotypic spectrum and neuroimaging features

Benign frontal horn cysts in a preterm neonate

Long-Term Follow-up Results of the DANTE Trial, a Randomized Study of Lung Cancer Screening with Spiral Computed Tomography

Neonatal neuroimaging findings in congenital myotonic dystrophy

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Clinical, radiological and genetic characterization of PLA2G6-associated neurodegeneration

Outcome in children with brain tumours diagnosed in the first year of life: long-term complications and quality of life

Joubert Syndrome and Related Disorders: Spectrum of Neuroimaging Findings in 75 Patients

Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum?

Brainstem disconnection: case report and review of the literature

A Randomized Study of Lung Cancer Screening with Spiral Computed Tomography: Three-year Results from the DANTE Trial

Neonatal Head and Spine Ultrasonography

Pontine tegmental cap dysplasia: the severe end of the clinical spectrum

Prenatal MR diffusion tractography in a fetus with complete corpus callosum agenesis

Leukoencephalopathy with vanishing white matter: serial MRI of the brain and spinal cord including diffusion tensor imaging

Normal cognitive functions in joubert syndrome

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