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Peroxisomal acyl-coa oxidase type 1: anti-inflammatory and anti-aging properties with a special emphasis on studies with lps and argan oil as a model transposable to aging
Oxidative medicine and cellular longevity, 25-03-2018, 2018 (eCollection2018), 6986984Article dans une revue scientifique -
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
Journal of medical genetics, 19-02-2018Article dans une revue scientifique -
De novo and inherited variants in znf292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Genetics in medicine . official journal of the American College of Medical Genetics, 14-11-2019Article dans une revue scientifique -
Arterial tortuosity syndrome: 40 new families and literature review
Genetics in medicine . official journal of the American College of Medical Genetics, 11-01-2018Article dans une revue scientifique -
The oculoauriculofrontonasal syndrome: further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
American journal of medical genetics. Part A, 10-12-2018Article dans une revue scientifique -
Bardet-biedl syndrome - tantenatal presentation of 45 fetuses with biallelic pathogenic variants in known bbs genes
Clinical Genetics, 07-01-2019Article dans une revue scientifique -
Betaine anhydrous in homocystinuria: results from the roch registry
Orphanet journal of rare diseases, 14-03-2019, 14, 66Article dans une revue scientifique -
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, 01-01-2019, 42, 93-106Article dans une revue scientifique -
Clinical relevance of egfr- or kras-mutated subclones in patients with advanced non-small-cell lung cancer receiving erlotinib in a french prospective cohort (ifct ermetic2 cohort - part 2)
Clinical lung cancer, 19-12-2018Article dans une revue scientifique -
Pycnodysostosis: natural history and management guidelines from 27 french cases and a literature review
Clinical Genetics, 25-06-2019Article dans une revue scientifique