Maladies Rares du Developpement Embryonnaire et du Metabolisme: du Phénotype au Génotype et à la Fonction Rademe

Top Publications

Top Publications Authored or Co-Authored in "Maladies Rares du Developpement Embryonnaire et du Metabolisme: du Phénotype au Génotype et à la Fonction Rademe"

• The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

  Journal of Human Genetics, Volume 65, No. 11, Year 2020, Citations 26
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 25
• Effects of a Short-Term Lipopolysaccharides Challenge on Mouse Brain and Liver Peroxisomal Antioxidant and β-Oxidative Functions: Protective Action of Argan Oil

  Pharmaceuticals, Volume 15, No. 4, Article 465, Year 2022, Citations 11
• Protective Effect of Nopal Cactus (Opuntia ficus-indica) Seed Oil against Short-Term Lipopolysaccharides-Induced Inflammation and Peroxisomal Functions Dysregulation in Mouse Brain and Liver

  International Journal of Molecular Sciences, Volume 23, No. 19, Article 11849, Year 2022, Citations 11
• Alpha1 antitrypsin deficiency due to an homozygous PI* Null Q0Cairo mutation: Early onset of pulmonary manifestations and variability of clinical expression

  Respiratory Medicine Case Reports, Volume 24, Year 2018, Citations 9