Hasil Pencarian - Fiona Blanco Kelly

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  1. 1
    An Update on the Genetics of Usher Syndrome

    An Update on the Genetics of Usher Syndrome oleh José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

    Diterbitkan 2011-01-01
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  2. 2
    Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

    Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks oleh Lorena de la Fuente, Marta Del Pozo-Valero, Irene Perea-Romero, Fiona Blanco-Kelly, Lidia Fernández-Caballero, Marta Cortón, Carmen Ayuso, Pablo Mínguez

    Diterbitkan 2023-01-01
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  3. 3
    Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene

    Generation of a human iPSC line from a patient with congenital glaucoma caused by mutation in CYP1B1 gene oleh Arantxa Bolinches-Amorós, Dunja Lukovic, Ana Artero Castro, Marian León, Kunka Kamenarova, Radka Kaneva, Pavla Jendelova, Fiona Blanco-Kelly, Carmen Ayuso, Marta Cortón, Slaven Erceg

    Diterbitkan 2018-04-01
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  4. 4
    Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

    Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia oleh María Tarilonte, Matías Morín, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Fiona Blanco-Kelly, Cristina Villaverde, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Saoud Tahsin-Swafiri, Blanca Gener, Blanca Gener, Miguel-Angel Moreno-Pelayo, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Carmen Ayuso, Manuela Villamar, Manuela Villamar, Marta Corton, Marta Corton

    Diterbitkan 2018-10-01
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  5. 5
    Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

    Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability. oleh Cristina Medina-Trillo, Francisco Sánchez-Sánchez, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Laura Morales, Carmen-Dora Méndez-Hernández, Fiona Blanco-Kelly, Carmen Ayuso, Julián García-Feijoo, Julio Escribano

    Diterbitkan 2015-01-01
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  6. 6
    Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

    Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. oleh Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton

    Diterbitkan 2017-01-01
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  7. 7
    Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

    Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. oleh Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso

    Diterbitkan 2016-01-01
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  8. 8
    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. oleh Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida, Almudena Avila-Fernández, José M Millán, Carmen Ayuso

    Diterbitkan 2018-01-01
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  9. 9
    Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

    Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis oleh Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton

    Diterbitkan 2020-08-01
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  10. 10
    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders oleh Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera

    Diterbitkan 2021-03-01
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  11. 11
    CD40: novel association with Crohn's disease and replication in multiple sclerosis susceptibility.

    CD40: novel association with Crohn's disease and replication in multiple sclerosis susceptibility. oleh Fiona Blanco-Kelly, Fuencisla Matesanz, Antonio Alcina, María Teruel, Lina M Díaz-Gallo, María Gómez-García, Miguel A López-Nevot, Luis Rodrigo, Antonio Nieto, Carlos Cardeña, Guillermo Alcain, Manuel Díaz-Rubio, Emilio G de la Concha, Oscar Fernandez, Rafael Arroyo, Javier Martín, Elena Urcelay

    Diterbitkan 2010-01-01
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  12. 12
    Correction: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility.

    Correction: Novel Association with Crohn's Disease and Replication in Multiple Sclerosis Susceptibility. oleh Fiona Blanco-Kelly, Fuencisla Matesanz, Antonio Alcina, María Teruel, Lina M. Díaz-Gallo, María Gómez-García, Miguel A. López-Nevot, Luis Rodrigo, Antonio Nieto, Carlos Cardeña, Guillermo Alcain, Manuel Díaz-Rubio, Emilio G. de la Concha, Oscar Fernandez, Rafael Arroyo, Javier Martín, Elena Urcelay

    Diterbitkan 2010-01-01
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  13. 13
    Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

    Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. oleh Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso

    Diterbitkan 2015-01-01
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  14. 14
    Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome oleh Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso

    Diterbitkan 2022-07-01
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  15. 15
    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. oleh Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

    Diterbitkan 2016-01-01
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  16. 16
    <i>PRPH2</i>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

    <i>PRPH2</i>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort oleh Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso

    Diterbitkan 2024-03-01
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  17. 17
    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 oleh Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso

    Diterbitkan 2021-01-01
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  18. 18
    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 oleh Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso

    Diterbitkan 2021-05-01
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  19. 19
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation oleh Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely

    Diterbitkan 2023-02-01
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