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Authors
- Ars, Elisabet
- Aurensanz Clemente, Esther
- Ayerza Casas, Ariadna
- Bueno Martínez, Ines
- Di Giovambattista, Anna Paola
- García Lasheras, Cecilia
- González-Meneses, Antonio
- Hernández Marcos, María
- Hernández-Jaras, Julio
- Jácome Querejeta, Itxaropena
- Montserrat Iglesias, Lorenzo
- Pelegrín Díaz, Juana
- Pie Juste, Juan
- Puisac Uriol, Beatriz
- Ramos Fuentes, Feliciano
- Ramos Fuentes, Feliciano J
- Ramos-Fuentes, Feliciano
- Rodríguez Martínez, Gerardo
- Ruiz Frontera, Pablo
- Teresa Rodrigo, María Esperanza
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Topics
- Cerebellar Diseases
- De Lange Syndrome
- Exosome Multienzyme Ribonuclease Complex
- Familial Hypophosphatemic Rickets
- Fatal Outcome
- Female
- Genetic Diseases, X-Linked
- Genetic Markers
- Genetic Predisposition to Disease
- Heart Defects, Congenital
- Humans
- Incidence
- Infant, Newborn
- Male
- Molecular Biology
- Mutation
- RNA-Binding Proteins
- Rare Diseases
- diagnosis
- genetics
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