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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

artículo científico publicado en 2016

CAD mutations and uridine-responsive epileptic encephalopathy.

artículo científico publicado en 2016

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

artículo científico publicado en 2018

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

artículo científico publicado en 2016

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

artículo científico publicado en 2020

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

scientific article published on 04 September 2020

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

scientific article published on 04 August 2020

Molecular and clinical spectra of FBXL4 deficiency.

artículo científico publicado en 2017

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

artículo científico publicado en 2016

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

artículo científico publicado en 2020

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

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