Lista de obras -

A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata

artículo científico publicado en 2018

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder

scientific article published on 28 August 2018

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

scientific article published on 21 March 2019

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

scientific article published on 27 December 2018

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

scientific article published on 19 March 2020

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

artículo científico publicado en 2015

De novo mutations in epileptic encephalopathies

artículo científico publicado en 2013

Expanding the molecular and clinical phenotypes of FUT8-CDG

scientific article published on 12 February 2020

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

artículo científico publicado en 2019

First-episode psychosis in an adolescent with seizure disorder and Tetralogy of Fallot

artículo científico publicado en 2009

Hallucinogens causing seizures? A case report of the synthetic amphetamine 2,5-dimethoxy-4-chloroamphetamine

artículo científico publicado en 2015

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

artículo científico publicado en 2018

MRI Surveillance of Boys with X-linked Adrenoleukodystrophy Identified by Newborn Screening: Meta-analysis and Consensus Guidelines

artículo científico publicado en 2020

Metabolic Disorders Presenting with Seizures in the Neonatal Period

scientific article published on 17 March 2020

Outcomes analysis after routine removal of implants in healthy pediatric patients.

artículo científico publicado en 2009

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Use of electronic medical record templates improves quality of care for patients with infantile spasms

artículo científico publicado en 2018

Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.

artículo científico publicado en 2017

Lista de obras de

A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

De novo mutations in epileptic encephalopathies

Expanding the molecular and clinical phenotypes of FUT8-CDG

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

First-episode psychosis in an adolescent with seizure disorder and Tetralogy of Fallot

Hallucinogens causing seizures? A case report of the synthetic amphetamine 2,5-dimethoxy-4-chloroamphetamine

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

MRI Surveillance of Boys with X-linked Adrenoleukodystrophy Identified by Newborn Screening: Meta-analysis and Consensus Guidelines

Metabolic Disorders Presenting with Seizures in the Neonatal Period

Outcomes analysis after routine removal of implants in healthy pediatric patients.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

Use of electronic medical record templates improves quality of care for patients with infantile spasms

Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.