Search Results - "Mort Farre, Sílvia"

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  1. 1
    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

    A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes by Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

    Published in Scientific reports (10-03-2017)
    “…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
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  2. 2
    A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes

    A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: Similarities between Schaaf-Yang and Opitz-C syndromes by Urreizti Frexedas, Roser, Cueto Gonzalez, Anna Maria, Franco Valls, Héctor, Mort Farre, Sílvia, Roca Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F, Cormand Rifà, Bru, Vilageliu i Arqués, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana

    Published in Scientific reports (10-03-2017)
    “…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
    Get full text
    Journal Article
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  3. 3
    A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes

    A de novo nonsense mutation in MAGEL2 in a patient initially diagnosed as Opitz-C: similarities between Schaaf-Yang and Opitz-C syndromes by Urreizti, Roser, Cueto González, Anna María, Franco Valls, Héctor, Mort Farre, Sílvia, Roca Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M, Neri, Giovanni, Grinberg, Daniel, Balcells, Susana

    Published in Scientific reports (2017)
    “…Opitz trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psychomotor disability,…”
    Get full text
    Journal Article
    Save to List
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