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Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. [electronic resource] by
- Aguilera, Cinthia
- Gabau, Elisabeth
- Laurie, Steve
- Baena, Neus
- Derdak, Sophia
- Capdevila, Núria
- Ramirez, Ariadna
- Delgadillo, Veronica
- García-Catalan, Maria Jesus
- Brun, Carme
- Guitart, Miriam
- Ruiz, Anna
Producer: 20190315
In:
Molecular genetics & genomic medicine vol. 7
Availability: No items available.
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Coenzyme Q [electronic resource] by
- Yubero, Dèlia
- Montero, Raquel
- O'Callaghan, Mar
- Pineda, Mercè
- Meavilla, Silvia
- Delgadillo, Veronica
- Sierra, Cristina
- Altimira, Laura
- Navas, Plácido
- Pope, Simon
- Oppenheim, Marcus
- Neergheen, Viruna
- Ghosh, Arunabha
- Mills, Phillipa
- Clayton, Peter
- Footitt, Emma
- Cleary, Maureen
- Hargreaves, Iain
- Jones, Simon A
- Heales, Simon
- Artuch, Rafael
Publication details: JIMD reports 2016
In:
JIMD reports vol. 25
Availability: No items available.
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Plasma coenzyme Q [electronic resource] by
- Montero, Raquel
- Yubero, Delia
- Salgado, Maria C
- González, María Julieta
- Campistol, Jaume
- O'Callaghan, Maria Del Mar
- Pineda, Mercè
- Delgadillo, Verónica
- Maynou, Joan
- Fernandez, Guerau
- Montoya, Julio
- Ruiz-Pesini, Eduardo
- Meavilla, Silvia
- Neergheen, Viruna
- García-Cazorla, Angels
- Navas, Placido
- Hargreaves, Iain
- Artuch, Rafael
Producer: 20200721
In:
Scientific reports vol. 9
Availability: No items available.
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