Lista de obras - Andrea Accogli - Dominio Público Uruguay

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

artículo científico publicado en 2018

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

artículo científico publicado en 2018

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

scientific article published on 28 November 2018

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity

artículo científico publicado en 2020

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

scientific article published on 07 February 2020

Developmental outcomes in children with congenital cerebellar malformations

artículo científico publicado en 2018

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

artículo científico publicado en 2019

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

scientific article published on 16 October 2019

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome

scientific article published on 20 September 2018

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

scientific article published on 28 March 2019

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

artículo científico publicado en 2014

Rare deleterious variants in GRHL3 are associated with human spina bifida

artículo científico publicado en 2017

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder

scientific article published on 27 May 2020

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

artículo científico publicado en 2021

Lista de obras de Andrea Accogli

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Developmental outcomes in children with congenital cerebellar malformations

Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

Rare deleterious variants in GRHL3 are associated with human spina bifida

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia