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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
(American Journal of Medical Genetics Part A. vol. 191, n° 1, pp. 52-63, 2023-01-01)Article de revue -
The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1869, n° 7, pp. 166767, 2023-10-01)Article de revue -
L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase
(Experimental Cell Research. vol. 426, n° 2, pp. 113568, 2023-05-15)Article de revue -
First clinical description of a pedigree with complete NAF1 deletion
(Leukemia & lymphoma. vol. 64, n° 2, pp. 487-490, 2023-02-01)Article de revue -
Mesenchymal - Stem and non-Stem - Cells: The name of the rose.
Autre document -
Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal
(Gynécologie Obstétrique Fertilité & Sénologie. vol. 51, n° 7-8, pp. 367-371, 2023-07-08)Article de revue -
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
(Biochimica et Biophysica Acta - Molecular Basis of Disease. vol. 1870, n° 1, pp. 166856, 2023-08-26)Article de revue -
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
(Journal of Medical Genetics. vol. 60, n° 6, pp. 620-626, 2023-06-01)Article de revue -
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
(American Journal of Human Genetics. vol. 110, n° 6, pp. 998-1007, 2023-06-01)Article de revue -
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
(Clinical Genetics. vol. 104, n° 5, pp. 554-563, 2023-11-01)Article de revue