Lista de obras -

A case report of rare ZC4H2-associated disorders associated with three large hernias

scientific article published on 20 July 2020

A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

scientific article published on 11 May 2020

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

scientific article published on 16 April 2020

A novel nonsense mutation in a patient with intractable epilepsy and cardiac malformation

artículo científico publicado en 2019

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.

artículo científico publicado en 2018

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant

artículo científico publicado en 2019

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

scientific article published on 19 April 2019

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

scientific article published on 16 July 2019

Essential roles of plexin-B3<sup>+</sup> oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease

artículo científico publicado en 2021

Genitopatellar syndrome: the first reported case in Japan.

artículo científico publicado en 2018

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

scientific article published on 26 February 2020

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

artículo científico publicado en 2019

Normal early development in siblings with novel compound heterozygous variants in ASPM

scientific article published on 01 January 2019

Novel NARS2 variant causing leigh syndrome with normal lactate levels

artículo científico publicado en 2022

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy

artículo científico publicado en 2019

The gene variants in Japanese children with idiopathic pancreatitis

article

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

Lista de obras de

A case report of rare ZC4H2-associated disorders associated with three large hernias

A commentary on germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

A novel nonsense mutation in a patient with intractable epilepsy and cardiac malformation

An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.

Clinical characteristics with long-term follow-up of four Okinawan families with moderate hearing loss caused by an OTOG variant

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

Essential roles of plexin-B3<sup>+</sup> oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease

Genitopatellar syndrome: the first reported case in Japan.

Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

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

Normal early development in siblings with novel compound heterozygous variants in ASPM

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy

The gene variants in Japanese children with idiopathic pancreatitis

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome