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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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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell SyndromeJournal of Clinical Endocrinology and Metabolism, 2018, 103 (7), pp.2436 - 2446. ⟨10.1210/jc.2017-02152⟩
Article dans une revue
hal-01926795v1
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