Search Results - Saez Villaverde, Raquel

  • Showing 1 - 8 results of 8
Refine Results
  1. 1
    Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism by De la Casa‐Fages, Beatriz, Fernández‐Eulate, Gorka, Gamez, Josep, Barahona‐Hernando, Raúl, Morís, Germán, García‐Barcina, María, Infante, Jon, Zulaica, Miren, Fernández‐Pelayo, Uxoa, Muñoz‐Oreja, Mikel, Urtasun, Miguel, Olaskoaga, Ander, Zelaya, Victoria, Jericó, Ivonne, Saez‐Villaverde, Raquel, Catalina, Irene, Sola, Emma, Martínez‐Sáez, Elena, Pujol, Aurora, Ruiz, Montserrat, Schlüter, Agatha, Spinazzola, Antonella, Muñoz‐Blanco, Jose Luis, Grandas, Francisco, Holt, Ian, Álvarez, Victoria, López de Munaín, Adolfo

    Published in Movement disorders
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  2. 2
    Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

    Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant by Hernández Dorronsoro, Unai, Gawlinski, Pawel, Lasa‐Aranzasti, Amaia, Martínez‐Soroa, Itziar, Artola Aizalde, Elena, Saez Villaverde, Raquel, Aguirre Rodríguez, Cristina, Satrustegi Aritziturri, Miren

    Published in Clinical genetics
    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  3. 3
    Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion” by De la Casa‐Fages, Beatriz, Fernández‐Eulate, Gorka, Gamez, Josep, Barahona‐Hernando, Raúl, Morís, Germán, García‐Barcina, María, Infante, Jon, Zulaica, Miren, Fernández‐Pelayo, Uxoa, Muñoz‐Oreja, Mikel, Urtasun, Miguel, Olaskoaga, Ander, Zelaya, Victoria, Jericó, Ivonne, Saez‐Villaverde, Raquel, Catalina, Irene, Sola, Emma, Martínez‐Sáez, Elena, Pujol, Aurora, Ruiz, Montserrat, Schlüter, Agatha, Spinazzola, Antonella, Muñoz‐Blanco, Jose Luis, Grandas, Francisco, Holt, Ian, Álvarez, Victoria, López de Munaín, Adolfo

    Published in Movement disorders
    Get full text
    Items that this one cites
    Article
    Save to List
    Saved in:
  4. 4
    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

    Published in Scientific reports
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  5. 5
    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity by Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

    Published in Ophthalmic genetics
    Get full text
    Items that this one cites
    Items that cite this one
    Article
    Save to List
    Saved in:
  6. 6
    Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen

    Published in Scientific reports
    Get full text
    Items that cite this one
    Article
    Save to List
    Saved in:
  7. 7
    Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

    Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant by Hernández Dorronsoro, Unai, Gawlinski, Pawel, Lasa-Aranzasti, Amaia, Martínez-Soroa, Itziar, Artola Aizalde, Elena, Saez Villaverde, Raquel, Aguirre Rodríguez, Cristina, Satrustegi Aritziturri, Miren

    Published in Clinical genetics
    Get full text
    Report
    Save to List
    Saved in:
  8. 8
    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity by Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

    Get full text
    Report
    Save to List
    Saved in:

Search Tools: