Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
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Published in Brain (London, England : 1878) (29.04.2022)
Published in Brain (London, England : 1878) (29.04.2022)
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Detection of a pathogenic Alu element insertion in PALB2 gene from targeted NGS diagnostic data
Eyries, Mélanie, Ariste, Olivier, Legrand, Gaelle, Basset, Noémie, Guillerm, Erell, Perrier, Alexandre, Duros, Caroline, Cohen-Haguenauer, Odile, de la Grange, Pierre, Coulet, Florence
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Published in European journal of human genetics : EJHG (01.10.2022)
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Molecular analyses of juvenile granulosa cell tumors bearing AKT1 mutations provide insights into tumor biology and therapeutic leads
Auguste, Aurélie, Bessière, Laurianne, Todeschini, Anne-Laure, Caburet, Sandrine, Sarnacki, Sabine, Prat, Jaime, D'angelo, Emanuela, De La Grange, Pierre, Ariste, Olivier, Lemoine, Fréderic, Legois, Bérangère, Sultan, Charles, Zider, Alain, Galmiche, Louise, Kalfa, Nicolas, Veitia, Reiner A
Published in Human molecular genetics (01.12.2015)
Published in Human molecular genetics (01.12.2015)
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