Showing 1 - 6 results of 6 for search 'Marta Rodríguez de Alba', query time: 0.07s Refine Results
  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. by Sara Perlado, Ana Bustamante-Aragonés, Marta Donas, Isabel Lorda-Sánchez, Javier Plaza, Marta Rodríguez de Alba

    Published 2016-01-01
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  2. 2
    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 by Maria Jose Trujillo-Tiebas, Laura Horcajada, Marta Ruiz Ramos, Marta Rodriguez de Alba, Javier Plaza, Isabel Lorda-Sanchez, Ana Bustamante-Aragones, Sara Perlado-Marina

    Published 2013-05-01
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  3. 3
    Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

    Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases by Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton

    Published 2023-06-01
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  4. 4
    Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation

    Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations... by Carolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, Rebeca Losada-Del Pozo, Beatriz Moreno, María Rodrigo-Moreno, Elena Martinez-Cayuelas, Rosa Riveiro-Alvarez, María Fenollar-Cortés, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera

    Published 2021-08-01
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  5. 5
    Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts

    Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts by Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Cortón

    Published 2021-11-01
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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 by 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

    Published 2021-03-01
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