Search filters

List of works by Seiji Mizuno

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Digenic mutations in <i>ALDH2</i> and <i>ADH5</i> impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

scientific article published on 18 December 2020

Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.

scientific article published on 5 November 2014

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.

scientific article

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

scientific article published on 01 June 2018

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

scientific article published on 8 July 2008

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

scientific article

Role of chimeric transcript formation in the pathogenesis of birth defects

scientific article published on 28 October 2020

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.

scientific article published on 22 June 2017

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

Paulina is supported by:

About Paulina

Help