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A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

artículo científico publicado en 2010

A pictorial review of the pathophysiology and classification of the magnetic resonance imaging patterns of perinatal term hypoxic ischemic brain injury - What the radiologist needs to know…

scientific article published on 30 October 2020

Aberrant Structural Brain Connectivity in Adolescents with Attentional Problems Who Were Born Prematurely

artículo científico publicado en 2018

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

artículo científico publicado en 2006

Antenatal Exposure to Magnesium Sulfate Is Associated with Reduced Cerebellar Hemorrhage in Preterm Newborns

artículo científico publicado en 2016

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

artículo científico publicado en 2013

Brain injury and development in newborns with critical congenital heart disease

artículo científico publicado en 2013

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

artículo científico publicado en 2012

Clinical and Imaging Characteristics of Arteriopathy Subtypes in Children with Arterial Ischemic Stroke: Results of the VIPS Study.

artículo científico publicado en 2017

Differential effects of intraventricular hemorrhage and white matter injury on preterm cerebellar growth

artículo científico publicado en 2010

Disorders of Microtubule Function in Neurons: Imaging Correlates

artículo científico publicado en 2015

Early postnatal docosahexaenoic acid levels and improved preterm brain development

artículo científico publicado en 2016

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations

scientific article published on 27 September 2018

Extreme premature birth is not associated with impaired development of brain microstructure

artículo científico publicado en 2010

Infection and white matter injury in infants with congenital cardiac disease

artículo científico publicado en 2011

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

artículo científico publicado en 2017

Microstructure of the Default Mode Network in Preterm Infants.

artículo científico publicado en 2016

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

artículo científico publicado en 2010

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

artículo científico publicado en 2015

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

scientific article published on 13 November 2018

Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients

artículo científico publicado en 2013

Preterm cerebellar growth impairment after postnatal exposure to glucocorticoids

artículo científico publicado en 2011

Recurrent postnatal infections are associated with progressive white matter injury in premature infants

artículo científico publicado en 2008

Redefining the Etiologic Landscape of Cerebellar Malformations

artículo científico publicado en 2019

Refining the Neuroimaging Definition of the Dandy-Walker Phenotype

artículo científico publicado en 2022

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

artículo científico publicado en 2020

The Contribution of the Corpus Callosum to Language Lateralization

artículo científico publicado en 2016