Lista de obras -

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases

artículo científico publicado en 2013

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

scientific article published on 11 May 2018

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

artículo científico publicado en 2017

Acute gastric dilatation.

artículo científico publicado en 1994

Acute spinal cord syndrome secondary to venous congestion

artículo científico publicado en 2016

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child.

artículo científico publicado en 2005

Angiographic features of 26 children with Takayasu's arteritis ⬇️

artículo científico publicado el 5 de febrero de 2003

Anterior temporal changes on MR images of children with hippocampal sclerosis: an effect of seizures on the immature brain?

artículo científico publicado en 2003

Aortic duplication artefact in a 14-year-old girl

artículo científico publicado en 2004

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

article

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

artículo científico publicado en 2013

Challenges of the Anatomy and Diffusion Tensor Tractography of the Meyer Loop ⬇️

artículo científico publicado el 15 de marzo de 2012

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

artículo científico publicado en 2020

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

artículo científico publicado en 2010

Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse * COMMENTARY ⬇️

artículo científico publicado el 1 de mayo de 2003

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

artículo científico publicado en 2014

Dorsal language stream anomalies in an inherited speech disorder

artículo científico publicado en 2019

Epileptic spasms are a feature of DEPDC5 mTORopathy.

artículo científico publicado en 2015

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

artículo científico publicado en 2013

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

artículo científico publicado en 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

artículo científico publicado en 2015

Gliomatosis cerebri in a patient with Ollier disease.

artículo científico publicado en 2011

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

artículo científico publicado en 2014

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

artículo científico publicado en 2012

MRI and preoperative embolization of a nasal cavity haemangioma in a child

artículo científico publicado en 2003

MRI of optic disc edema in childhood idiopathic intracranial hypertension.

artículo científico

Medial temporal lobe dysgenesis in hypochondroplasia.

artículo científico publicado en 2005

Menkes disease: a rare cause of bilateral inguinal hernias.

artículo científico publicado en 2005

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

artículo científico publicado en 2017

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

artículo científico publicado en 2017

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

artículo científico publicado en 2014

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

artículo científico publicado en 2017

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

artículo científico publicado en 2015

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

artículo científico publicado en 2017

Sonography of the pediatric gastrointestinal system.

artículo científico

Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis

artículo científico publicado en 2013

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

artículo científico publicado en 2013

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

artículo científico publicado en 2017

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.

artículo científico publicado en 2015

Lista de obras de

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Acute gastric dilatation.

Acute spinal cord syndrome secondary to venous congestion

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child.

Angiographic features of 26 children with Takayasu's arteritis ⬇️

Anterior temporal changes on MR images of children with hippocampal sclerosis: an effect of seizures on the immature brain?

Aortic duplication artefact in a 14-year-old girl

Australian Clinical Consensus Guideline: The diagnosis and acute management of childhood stroke

Bilateral posterior periventricular nodular heterotopia: a recognizable cortical malformation with a spectrum of associated brain abnormalities.

Challenges of the Anatomy and Diffusion Tensor Tractography of the Meyer Loop ⬇️

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Complementary use of radiological skeletal survey and bone scintigraphy in detection of bony injuries in suspected child abuse * COMMENTARY ⬇️

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Dorsal language stream anomalies in an inherited speech disorder

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Gliomatosis cerebri in a patient with Ollier disease.

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

MRI and preoperative embolization of a nasal cavity haemangioma in a child

MRI of optic disc edema in childhood idiopathic intracranial hypertension.

Medial temporal lobe dysgenesis in hypochondroplasia.

Menkes disease: a rare cause of bilateral inguinal hernias.

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Sonography of the pediatric gastrointestinal system.

Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis

TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.