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List of works by Claudia Soler-Alfonso

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

scientific article

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency

scientific article published on 07 March 2019

Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolism

scientific article published on 7 November 2014

Improved standards for prenatal diagnosis of citrullinemia

scientific article published on 16 May 2014

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

scientific article

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency

scientific article published on 25 January 2019

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive

scientific article

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS

scientific article published on 13 July 2020

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