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List of works by Rocio Acuna-Hidalgo

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

scientific article (publication date: 4 September 2014)

New insights into the generation and role of de novo mutations in health and disease

scientific article published on 28 November 2016

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

scientific article published on 2 July 2015

Rare mutations in SLC12A1 and SLC12A3 protect against hypertension by reducing the activity of renal salt cotransporters

scientific article published in March 2011

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

scientific article published on 10 February 2015

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