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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

artículo científico publicado en 2011

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

artículo científico publicado en 2018

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

Preimplantation Genetic Testing for Monogenic Kidney Disease

scientific article published on 27 August 2020

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The Effectiveness of an Online Decision Aid on Reproductive Options for Couples at Risk of Transmitting a Genetic Disease to their Offspring: Protocol for a Randomized Controlled Trial

scientific article published in 2023

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