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Lista de obras de Suzanne C E H Sallevelt

A comprehensive strategy for exome-based preconception carrier screening.

artículo científico publicado en 2016

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

scientific article published on 01 September 2019

De novo mtDNA point mutations are common and have a low recurrence risk.

artículo científico publicado en 2016

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

artículo científico publicado en 2018

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

artículo científico publicado en 2016

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

article

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