检索结果 - Franclo Henning

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  1. 1
    Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

    Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines 由 Emiliano Giardina, Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier, Nienke van der Stoep, Patrick J. van der Vliet, Rafaëlle Bernard, Pedro José Tomaselli, Mark R. Davis, Ichizo Nishino, Piraye Oflazer, Valérie Race, Venugopalan Y. Vishnu, Victoria Williams, Cláudia Ferreira da Rosa Sobreira, Silvère M. van der Maarel, Steven A. Moore, Nicol C. Voermans, Richard J.L.F. Lemmers

    出版 2024
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  2. 2
    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions 由 Lydia Sagath, Kirsi Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis Rogers, Maureen Kelly Galindo, Katalin Scherer, Erdmute Kunstmann, Erkan Koparir, D D Ho, Mark R. Davis, Purwa Joshi, A. Zygmunt, Rotem Orbach, Sandra Donkervoort, C. Bönnemann, Marco Savarese, Andoni Echaniz‐Laguna, Valérie Biancalana, Casie A. Genetti, Susan T. Iannaccone, Alan H. Beggs, Carina Wallgren‐Pettersson, Franclo Henning, Katarina Pelin, Vilma‐Lotta Lehtokari

    出版 2025
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  3. 3
    Neuromuscular disease genetics in under-represented populations: increasing data diversity

    Neuromuscular disease genetics in under-represented populations: increasing data diversity 由 Lindsay A. Wilson, William L. Macken, Luke Perry, Christopher J. Record, Katherine Schon, Rodrigo Siqueira Soares Frezatti, Sharika Raga, K. Satyam Naidu, Özlem Yayıcı Köken, İpek Polat, Musambo M Kapapa, Natalia Dominik, Stéphanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R. Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J.L.F. Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina Trainor, Elizabeth Steyn, Amokelani C. Mahungu, Patrick J. van der Vliet, Ahmet Cevdet Ceylan, Semra Hız Kurul, Büşranur Çavdarlı, Cavidan Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik Bharadwaj Tallapaka, Periyasamy Govindaraj, Silvère M. van der Maarel, Narayanappa Gayathri, Bevinahalli N. Nandeesh, Somwe Wa Somwe, David Bearden, Michelle Kvalsund, Gita Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sárközy, Enrico Bugiardini, Franclo Henning, Jo M. Wilmshurst, Jeannine M. Heckmann, Robert McFarland, Robert W. Taylor, Izelle Smuts, Francois H. van der Westhuizen, Cláudia Ferreira da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin Dalal, M.V. Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Y. Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horváth, Patrick F. Chinnery, Robert D. S. Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcová, Mary M. Reilly, Michael G. Hanna

    出版 2023
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