Departamento
Pediatría
Cartas (4) Publicaciones en las que ha participado algún/a investigador/a
2019
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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
Clinical Genetics
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COST Actions: fostering collaborative research for rare diseases
The Lancet Neurology
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Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
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Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?
Clinical Nutrition