Lista de obras -

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep

artículo científico publicado en 2015

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

scientific article published on 04 March 2020

Brain white matter abnormalities associated with copy number variants

artículo científico publicado en 2019

Clinical phenotypes of infantile onset CACNA1A-related disorder

artículo científico publicado en 2020

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy

artículo científico publicado en 2018

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero

artículo científico publicado en 2012

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt

artículo científico publicado en 2013

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

artículo científico publicado en 2020

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

scientific article published on 27 September 2018

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

artículo científico publicado en 2020

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

artículo científico publicado en 2013

Metabolic stroke in a patient with bi-allelic OPA1 mutations

scientific article published on 10 April 2019

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

scientific article published on 03 November 2011

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach

scientific article published on 25 May 2018

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

artículo científico publicado en 2015

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

artículo científico publicado en 2014

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

artículo científico publicado en 2015

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

artículo científico publicado en 2012

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

artículo científico

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

artículo científico publicado en 2016

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

artículo científico publicado en 2016

Lista de obras de

Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features

Brain white matter abnormalities associated with copy number variants

Clinical phenotypes of infantile onset CACNA1A-related disorder

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero

Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: no doubt

Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Metabolic stroke in a patient with bi-allelic OPA1 mutations

Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia

Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program

Resolution of epileptic encephalopathy following treatment with transdermal nicotine

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

The molecular and phenotypic spectrum of IQSEC2-related epilepsy

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients