Lista de obras -

A SNP in the ABCC11 gene is the determinant of human earwax type

artículo científico publicado en 2006

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

scientific article published on 23 June 2019

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy

artículo científico publicado en 2019

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

artículo científico publicado en 2020

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

artículo científico publicado en 2019

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

scientific article published on 09 January 2019

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant

scientific article published on 14 April 2020

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

artículo científico publicado en 2019

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

artículo científico publicado en 2018

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

artículo científico publicado en 2020

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

artículo científico publicado en 2017

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant

artículo científico publicado en 2020

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

artículo científico publicado en 2007

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

scientific article published on 01 June 2020

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

artículo científico publicado en 2019

Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA

scientific article published on 01 October 2008

Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders"

artículo científico publicado en 2019

Lista de obras de

A SNP in the ABCC11 gene is the determinant of human earwax type

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21

CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant

Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA

Reply to "Reduced CYFIP2 Stability by Arg87 Variants Causing Human Neurological Disorders"