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Author/Creator Santomé, Luis

1. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations. Issue 5 (27th March 2019)

Authors:
Montalván‐Suárez, Martha; Esperón‐Moldes, Uxia Saraiva; Rodríguez‐Pazos, Laura; Ordóñez‐Ugalde, Andrés; Moscoso, Fernanda; Ugalde‐Noritz, Nora; Santomé, Luis; Fachal, Laura; Tettamanti‐Miranda, Daniel; Ruiz, Juan Carlos; Ginarte, Manuel; Vega, Ana
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 5(2019)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy. Issue 17 (25th May 2020)

Authors:
Salazar-Mendiguchía, Joel; Ochoa, Juan Pablo; Palomino-Doza, Julian; Domínguez, Fernando; Díez-López, Carles; Akhtar, Mohammed; Ramiro-León, Soraya; Clemente, María M; Pérez-Cejas, Antonia; Robledo, María; Gómez-Díaz, Iria; Peña-Peña, María Luisa; Climent, Vicente; Salmerón-Martínez, Francisco; H...
Journal:
Heart
Issue:
Volume 106:Issue 17(2020)
Page Start:
1342
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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