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Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome by Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, Julia Del Rincón, Pilar Pamplona, María Arnedo, Beatriz Puisac, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Feliciano J. Ramos, Juan Pié, Ana Latorre-Pellicer
Published 2025-07-01Get full text
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The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. by Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm
Published 2020-01-01Get full text
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