Hasil Pencarian - Fernando Santos‐Simarro

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  1. 1
    Advances in clinical genetics and its current challenges

    Advances in clinical genetics and its current challenges oleh Fernando Santos Simarro

    Diterbitkan 2022-10-01
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  2. 2
    Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

    Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome oleh Francisca Diaz-Gonzalez, Francisca Diaz-Gonzalez, Javier M. Sacedo-Gutiérrez, Javier M. Sacedo-Gutiérrez, Stephen R. F. Twigg, Eduardo Calpena, Fernando E. Carceller-Benito, Fernando E. Carceller-Benito, Manuel Parrón-Pajares, Manuel Parrón-Pajares, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Karen E. Heath, Karen E. Heath, Karen E. Heath

    Diterbitkan 2023-01-01
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  3. 3
    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

    Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum oleh María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido

    Diterbitkan 2018-03-01
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  4. 4
    <i>NOTCH1</i> Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

    <i>NOTCH1</i> Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported oleh Laura Torres-Juan, Yolanda Rico, Elena Fortuny, Jaume Pons, Rafael Ramos, Fernando Santos-Simarro, Víctor Asensio, Iciar Martinez, Damian Heine-Suñer

    Diterbitkan 2023-05-01
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  5. 5
    Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature

    Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature oleh Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez

    Diterbitkan 2017-01-01
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  6. 6
    A new variant in PHKA2 is associated with glycogen storage disease type IXa

    A new variant in PHKA2 is associated with glycogen storage disease type IXa oleh Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa

    Diterbitkan 2017-03-01
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  7. 7
    Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients

    Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients oleh Rosa E. Enacán, Mariana Nuñez Miñana, Luis Fernandez, Maria Gabriela Valle, Mercedes Salerno, Claudia I. Fraga, Fernando Santos-Simarro, Laura Prieto, Pablo Lapunzina, Norma Specola, Ana Elena Chiesa

    Diterbitkan 2019-12-01
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  8. 8
    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome oleh Julián Nevado, Julián Nevado, Julián Nevado, Cristina Bel-Fenellós, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Adolfo Hernández, Chantal Biencinto-López, María Luisa Martínez-Fernández, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, María Ángeles Mori-Álvarez, María Ángeles Mori-Álvarez, María Ángeles Mori-Álvarez, Elena Mansilla, Elena Mansilla, Elena Mansilla, Fé Amalia García-Santiago, Fé Amalia García-Santiago, Fé Amalia García-Santiago, Isabel Valcorba, Isabel Valcorba, Isabel Valcorba, Belén Sáenz-Rico, María Luisa Martínez-Frías, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina

    Diterbitkan 2021-07-01
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  9. 9
    <i>OPA1</i> Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

    <i>OPA1</i> Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population oleh Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval

    Diterbitkan 2023-01-01
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  10. 10
    Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome

    Prenatal ultrasound findings in Koolen‐de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome oleh Fe Amalia García‐Santiago, Cristina Martínez‐Payo, Elena Mansilla, Fernando Santos‐Simarro, Miguel Ruiz de Azua Ballesteros, María Ángeles Mori, Eugenia Antolín Alvarado, Yolanda Nieto, Isabel Vallcorba, Jair Tenorio, Julián Nevado, Pablo Lapunzina

    Diterbitkan 2021-05-01
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  11. 11
    New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

    New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients oleh Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido

    Diterbitkan 2019-11-01
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  12. 12
    Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento

    Acondroplasia: actualización en diagnóstico, seguimiento y tratamiento oleh Antonio Leiva Gea, María F. Martos Lirio, Ana Coral Barreda Bonis, Silvia Marín del Barrio, Karen E. Heath, Purificacion Marín Reina, Encarna Guillén Navarro, Fernando Santos Simarro, Isolina Riaño Galán, Diego Yeste Fernández, Isabel Leiva-Gea

    Diterbitkan 2022-12-01
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  13. 13
    Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

    Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study oleh Eva González-Iglesias, Ana López-Vázquez, Susana Noval, María Nieves-Moreno, María Granados-Fernández, Natalia Arruti, Irene Rosa-Pérez, Marta Pacio-Míguez, Victoria E. F. Montaño, Patricia Rodríguez-Solana, Angela del Pozo, Fernando Santos-Simarro, Elena Vallespín

    Diterbitkan 2022-04-01
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  14. 14
    Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

    Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome oleh María E. Teresa-Rodrigo, Juliane Eckhold, Beatriz Puisac, Andreas Dalski, María C. Gil-Rodríguez, Diana Braunholz, Carolina Baquero, María Hernández-Marcos, Juan C. de Karam, Milagros Ciero, Fernando Santos-Simarro, Pablo Lapunzina, Jolanta Wierzba, César H. Casale, Feliciano J. Ramos, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Juan Pié

    Diterbitkan 2014-06-01
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  15. 15
    Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

    Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study oleh Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

    Diterbitkan 2023-03-01
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  16. 16
    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

    Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies oleh Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving

    Diterbitkan 2022-03-01
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  17. 17
    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals oleh Julián Nevado, Julián Nevado, Julián Nevado, Sixto García-Miñaúr, Sixto García-Miñaúr, Sixto García-Miñaúr, María Palomares-Bralo, María Palomares-Bralo, María Palomares-Bralo, Elena Vallespín, Elena Vallespín, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, Cristina Bel-Fenellós, María Ángeles Mori, María Ángeles Mori, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Jair Antonio Tenorio, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Elena Mansilla, Elena Mansilla, Isabel Vallcorba, Isabel Vallcorba, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

    Diterbitkan 2022-04-01
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  18. 18
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles oleh Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia A. Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien van Gils, Anna C.E. Hurst, Frank J. Kaiser, Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabíola P. Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos-Simarro, Brittany N. Simpson, Mariëlle Alders, Stephen P. Robertson, Bekim Sadikovic, Leonie A. Menke

    Diterbitkan 2024-10-01
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  19. 19
    Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark–Baraitser Syndrome

    Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark–Baraitser Syndrome oleh Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman

    Diterbitkan 2022-11-01
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  20. 20
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders oleh Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

    Diterbitkan 2022-01-01
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