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    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH 由 Joe Rainger, Hemant Bengani, Lauren Campbell, Eric C. Anderson, K. Sokhi, Wayne Lam, Angelika Rieß, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn J. McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, S. McKay, Hilary G. Morrison, Bethan Medina, Marcus Robertson, Jürgen Kohlhase, Christopher T. Gordon, J M Kirk, Dagmar Wieczorek, David Fitzpatrick

    出版 2012
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    Artigo
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    Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    Alpha-protein kinase 3 (<i>ALPK3</i>) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy 由 Luís R. Lopes, Soledad García-Hernández, Massimiliano Lorenzini, Marta Futema, О. С. Чумакова, D. A. Zateyshchikov, María Isidoro‐García, Eduardo Villacorta, Luis Escobar-López, Pablo García‐Pavía, R.M. Bilbao, David Dobarro, María Sandín‐Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Robles Mezcua, Jose Garcia Pinilla, Torsten B. Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Martí, María Teresa Basurte Elorz, Alicia Bautista Pavés, Juan R. Gimeno, Ana Virginia Figueroa, Raúl Franco‐Gutiérrez, María Eugenia Fuentes‐Cañamero, Marina Martínez Moreno, Martín Ortiz-Genga, Jesús Piqueras‐Flores, Karina Analía Ramos, Ainārs Rudzītis, Luis Ruiz‐Guerrero, Ricardo Stein, Mayte Triguero-Bocharán, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y T Kwok, Jacob Smith, Enzo R. Porrello, Mohammed Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry Elliott

    出版 2021
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    Artigo
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