Ngā hua rapu - Lorda‐Sanchez, Isabel

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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 mā Perlado, Sara, Bustamante-Aragonés, Ana, Donas, Marta, Lorda-Sánchez, Isabel, Plaza, Javier, Rodríguez de Alba, Marta

    I whakaputaina 2016
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  2. 2
    Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA

    Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA mā Sanchez-Jimeno, Carolina, Bustamante-Aragonés, Ana, Infantes-Barbero, Fernando, Rodriguez De Alba, Marta, Ramos, Carmen, Trujillo-Tiebas, María Jose, Lorda-Sánchez, Isabel

    I whakaputaina 2014
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  3. 3
    Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis

    Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe ampl... mā Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda‐Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin

    I whakaputaina 2017
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  4. 4
    Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

    Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies mā Bustamante-Aragones †, Ana, Perlado-Marina †, Sara, Trujillo-Tiebas, Maria José, Gallego-Merlo, Jesús, Lorda-Sanchez, Isabel, Rodríguez-Ramirez, Luz, Linares, Concepcion, Hernandez, Corazón, Rodriguez de Alba, Marta

    I whakaputaina 2014
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  5. 5
    Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis

    Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis mā Bustamante-Aragones, Ana, Vallespin, Elena, Rodriguez de Alba, Marta, Trujillo-Tiebas, Maria Jose, Gonzalez-Gonzalez, Cristina, Diego-Alvarez, Dan, Riveiro-Alvarez, Rosa, Lorda-Sanchez, Isabel, Ayuso, Carmen, Ramos, Carmen

    I whakaputaina 2008
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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 mā Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta

    I whakaputaina 2017
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  7. 7
    Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

    Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies mā Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Martin-Merida, Inmaculada, Blanco-Kelly, Fiona, Swafiri, Saoud, Lorda-Sanchez, Isabel, Trujillo-Tiebas, Maria José, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Corton, Marta, Avila-Fernandez, Almudena, Ayuso, Carmen

    I whakaputaina 2022
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  8. 8
    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... mā Sanchez-Jimeno, Carolina, Blanco-Kelly, Fiona, López-Grondona, Fermina, Losada-Del Pozo, Rebeca, Moreno, Beatriz, Rodrigo-Moreno, María, Martinez-Cayuelas, Elena, Riveiro-Alvarez, Rosa, Fenollar-Cortés, María, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

    I whakaputaina 2021
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  9. 9
    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 mā Martinez-Granero, Francisco, Blanco-Kelly, Fiona, Sanchez-Jimeno, Carolina, Avila-Fernandez, Almudena, Arteche, Ana, Bustamante-Aragones, Ana, Rodilla, Cristina, Rodríguez-Pinilla, Elvira, Riveiro-Alvarez, Rosa, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria Jose, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta

    I whakaputaina 2021
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  10. 10
    Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

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

    I whakaputaina 2022
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  11. 11
    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 mā 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

    I whakaputaina 2021
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  12. 12
    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 mā 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

    I whakaputaina 2021
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  13. 13
    Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

    Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review mā Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Martinez-Glez, Víctor, Santos-Simarro, Fernando, García-Miñaúr, Sixto, Palomares-Bralo, María, Pacio-Míguez, Marta, Gómez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrión, Juan, Arias, Patricia, Almoguera, Berta, López-Grondona, Fermina, Lorda-Sanchez, Isabel, Galán-Gómez, Enrique, Valenzuela, Irene, Méndez Perez, María Pilar, Cuscó, Ivón, Barros, Francisco, Pié, Juan, Ramos, Sergio, Ramos, Feliciano J., Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank J., Pérez-Jurado, Luis A., Carracedo, Ángel, Lapunzina, Pablo

    I whakaputaina 2021
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  14. 14
    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies mā Xu, Mingchu, Xie, Yajing (Angela), Abouzeid, Hana, Gordon, Christopher T., Fiorentino, Alessia, Sun, Zixi, Lehman, Anna, Osman, Ihab S., Dharmat, Rachayata, Riveiro-Alvarez, Rosa, Bapst-Wicht, Linda, Babino, Darwin, Arno, Gavin, Busetto, Virginia, Zhao, Li, Li, Hui, Lopez-Martinez, Miguel A., Azevedo, Liliana F., Hubert, Laurence, Pontikos, Nikolas, Eblimit, Aiden, Lorda-Sanchez, Isabel, Kheir, Valeria, Plagnol, Vincent, Oufadem, Myriam, Soens, Zachry T., Yang, Lizhu, Bole-Feysot, Christine, Pfundt, Rolph, Allaman-Pillet, Nathalie, Nitschké, Patrick, Cheetham, Michael E., Lyonnet, Stanislas, Agrawal, Smriti A., Li, Huajin, Pinton, Gaëtan, Michaelides, Michel, Besmond, Claude, Li, Yumei, Yuan, Zhisheng, von Lintig, Johannes, Webster, Andrew R., Le Hir, Hervé, Stoilov, Peter, Amiel, Jeanne, Hardcastle, Alison J., Ayuso, Carmen, Sui, Ruifang, Chen, Rui, Allikmets, Rando, Schorderet, Daniel F.

    I whakaputaina 2017
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