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Author/Creator Gener Querol, Blanca

1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy. (15th July 2021)

Authors:
Lopes, Luis R; Garcia-Hernández, Soledad; Lorenzini, Massimiliano; Futema, Marta; Chumakova, Olga; Zateyshchikov, Dmitry; Isidoro-Garcia, Maria; Villacorta, Eduardo; Escobar-Lopez, Luis; Garcia-Pavia, Pablo; Bilbao, Raquel; Dobarro, David; Sandin-Fuentes, Maria; Catalli, Claudio; Gener Querol, Bl...
Journal:
European heart journal
Issue:
Volume 42:Number 32(2021)
Page Start:
3063
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations. Issue 12 (20th September 2016)

Authors:
Fergelot, Patricia; Van Belzen, Martine; Van Gils, Julien; Afenjar, Alexandra; Armour, Christine M.; Arveiler, Benoit; Beets, Lex; Burglen, Lydie; Busa, Tiffany; Collet, Marie; Deforges, Julie; de Vries, Bert B. A.; Dominguez Garrido, Elena; Dorison, Nathalie; Dupont, Juliette; Francannet, Christ...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 12(2016)
Page Start:
3069
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗