检索结果 - Rebecca Procopio

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  1. 1
    A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases

    A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases 由 Karen E. Lee, Jose S. Pulido, Mariana Matioli da Palma, Rebecca Procopio, Robert B. Hufnagel, Margaret Reynolds

    出版 2023
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    Revisão
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  2. 2
    Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

    Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients 由 Rachael C. Heath Jeffery, Jennifer A Thompson, Johnny Lo, Enid S. Chelva, Sean Armstrong, Jose S. Pulido, Rebecca Procopio, Andrea L. Vincent, Lorenzo Bianco, Maurízio Battaglia Parodi, Lucia Ziccardi, Giulio Antonelli, Lucilla Barbano, João P. Marques, Sara Geada, Ana L. Carvalho, Wei C. Tang, Choi M. Chan, Camiel J.F. Boon, Jonathan Hensman, Ta‐Ching Chen, Chien-Yu Lin, Pei-Lung Chen, Ajoy Vincent, Anupreet Tumber, Elise Heon, John Grigg, Robyn V. Jamieson, Elisa E. Cornish, Benjamin M. Nash, Shyamanga Borooah, Lauren N. Ayton, Alexis Ceecee Britten-Jones, Thomas L. Edwards, Jonathan B. Ruddle, Abhishek Sharma, Rowan GB Porter, Tina M. Lamey, Terri L. McLaren, Samuel McLenachan, Danial Roshandel, Fred K. Chen

    出版 2024
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    Artigo
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  3. 3
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants 由 Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    出版 2022
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    Artigo
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