Hasil Pencarian - Neus Castells

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  1. 1
    Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio

    Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio oleh Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja

    Diterbitkan 2018-07-01
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  2. 2
    Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis

    Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis oleh Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja

    Diterbitkan 2018-07-01
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  3. 3
    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain)

    Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years’ experience in Catalonia (Spain) oleh Andrea Martin‐Nalda, Anna M. Cueto‐González, Ana Argudo‐Ramírez, Jose L. Marin‐Soria, Monica Martinez‐Gallo, Roger Colobran, Albert Plaja, Neus Castells, Jacques Riviere, Eduardo F. Tizzano, Pere Soler‐Palacin

    Diterbitkan 2019-12-01
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  4. 4
    Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

    Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report oleh Clara Franco-Jarava, Clara Franco-Jarava, Clara Franco-Jarava, Irene Valenzuela, Irene Valenzuela, Jacques G. Riviere, Jacques G. Riviere, Jacques G. Riviere, Marina Garcia-Prat, Marina Garcia-Prat, Marina Garcia-Prat, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Mónica Martínez-Gallo, Romina Dieli-Crimi, Romina Dieli-Crimi, Romina Dieli-Crimi, Neus Castells, Neus Castells, Laura Batlle-Masó, Laura Batlle-Masó, Pere Soler-Palacin, Pere Soler-Palacin, Pere Soler-Palacin, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

    Diterbitkan 2022-06-01
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  5. 5
    Functional Insight into and Refinement of the Genomic Boundaries of the <i>JARID2</i>-Neurodevelopmental Disorder Episignature

    Functional Insight into and Refinement of the Genomic Boundaries of the <i>JARID2</i>-Neurodevelopmental Disorder Episignature oleh Liselot van der Laan, Kathleen Rooney, Sadegheh Haghshenas, Ananília Silva, Haley McConkey, Raissa Relator, Michael A. Levy, Irene Valenzuela, Laura Trujillano, Amaia Lasa-Aranzasti, Berta Campos, Neus Castells, Eline A. Verberne, Saskia Maas, Mariëlle Alders, Marcel M. A. M. Mannens, Mieke M. van Haelst, Bekim Sadikovic, Peter Henneman

    Diterbitkan 2023-09-01
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