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1 Ergebnisse
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Schuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental diso..:
Tenorio-Castaño, Jair
;
Morte, Beatriz
;
Nevado, Julián
...
Genes. , 2021
Link:
http://hdl.handle.net/10486/699466
RT Journal T1
Schuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental disorder): Seven novel patients and a review
UL https://suche.suub.uni-bremen.de/peid=base-ftuamadrid:oai:repositorio.uam.es:10486_699466&Exemplar=1&LAN=DE A1 Tenorio-Castaño, Jair A1 Morte, Beatriz A1 Nevado, Julián A1 Martinez-Glez, Víctor A1 Santos-Simarro, Fernando A1 García-Miñaúr, Sixto A1 Palomares-Bralo, María A1 Pacio-Míguez, Marta A1 Gómez, Beatriz A1 Arias, Pedro A1 Alcochea, Alba A1 Carrión, Juan A1 Arias, Patricia A1 Almoguera, Berta A1 López-Grondona, Fermina A1 Lorda-Sanchez, Isabel A1 Galán-Gómez, Enrique A1 Valenzuela, Irene A1 Perez, María Pilar Méndez A1 Cuscó, Ivón A1 Barros, Francisco A1 Pié, Juan A1 Ramos, Sergio A1 Ramos, Feliciano J A1 Kuechler, Alma A1 Tizzano, Eduardo A1 Ayuso, Carmen A1 Kaiser, Frank J A1 Pérez-Jurado, Luis A A1 Carracedo, Ángel A1 Lapunzina, Pablo PB MDPI YR 2021 K1 Intellectual disability K1 Phospho-furin acidic cluster sorting protein 1 K1 Rare disorders K1 Schuurs–Hoeijmakers syndrome K1 pathogenic variant c.607C > T K1 PACS1 K1 Medicina JF Genes LK http://hdl.handle.net/10486/699466 DO http://hdl.handle.net/10486/699466 SF ELIB - SuUB Bremen
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