Hasil Pencarian - Isabel Lorda

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  1. 1
    Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

    Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin. oleh Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza, Marta Rodríguez de Alba

    Diterbitkan 2016-01-01
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  2. 2
    Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report

    Positive/retained SDHB immunostaining in renal cell carcinomas associated to germline SDHB-deficiency: case report oleh Marina Ugarte-Camara, Raul Fernandez-Prado, Isabel Lorda, Gabriela Rossello, Carmen Gonzalez-Enguita, Pablo Cannata-Ortiz, Alberto Ortiz

    Diterbitkan 2019-05-01
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  3. 3
    Generalized dystonia without Parkinsonism in an LRRK2 carrier

    Generalized dystonia without Parkinsonism in an LRRK2 carrier oleh Lola Díaz-Feliz, Cici Feliz-Feliz, Javier Del Val, Almudena Ávila-Fernández, Isabel Lorda-Sanchez, Pedro J. García-Ruiz

    Diterbitkan 2022-01-01
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  4. 4
    Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood

    Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood oleh Maria Jose Trujillo-Tiebas, Laura Horcajada, Marta Ruiz Ramos, Marta Rodriguez de Alba, Javier Plaza, Isabel Lorda-Sanchez, Ana Bustamante-Aragones, Sara Perlado-Marina

    Diterbitkan 2013-05-01
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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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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  10. 10
    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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