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A phase II, randomized, study of weekly APG101+reirradiation versus reirradiation in progressive glioblastoma

artículo científico publicado en 2014

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

artículo científico publicado en 2016

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

artículo científico publicado en 2015

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

artículo científico publicado en 2017

INFORM2 NivEnt: The first trial of the INFORM2 biomarker driven phase I/II trial series: the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies

artículo científico publicado en 2020

Lomustine and Bevacizumab in Progressive Glioblastoma

artículo científico publicado en 2017

MRI and (1)H-MRS in adenosine kinase deficiency

artículo científico publicado en 2016

NIMG-75. NECROSIS DURING TREATMENT IS ASSOCIATED WITH WORSE SURVIVAL IN RECURRENT GLIOBLASTOMA PATIENTS – POST HOC IMAGE ANALYSIS OF EORTC 26101

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

scientific article published on 02 May 2019

POLR3A variants with striatal involvement and extrapyramidal movement disorder

scientific article published on 15 January 2020

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1

artículo científico publicado en 2018

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

artículo científico publicado en 2015

Response to trametinib treatment in progressive pediatric low-grade glioma patients

artículo científico publicado en 2020

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