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triés par
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.Genetics in Medicine, 2017, 19 (9), pp.989-997. ⟨10.1038/gim.2016.220⟩
Article dans une revue
hal-01560452v1
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesAmerican Journal of Human Genetics, 2017, 101 (5), pp.664 - 685. ⟨10.1016/j.ajhg.2017.09.008⟩
Article dans une revue
hal-01680255v1
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