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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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2013

Role of chimeric transcript formation in the pathogenesis of birth defects

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

article

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