نتائج البحث - Krutik Patel

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  1. 1
    Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort

    Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort حسب Maryke Schoonen, Mahmoud R. Fassad, Krutik Patel, Michelle Bisschoff, Armand Vorster, Tendai Makwikwi, Ronel Human, Elsa Lubbe, Malebo Nonyane, Barend Christiaan Vorster, Ana Töpf, Michael G. Hanna, Robert W. Taylor, Robert McFarland, Lindsay A. Wilson, Francois H. van der Westhuizen, Izelle Smuts

    منشور في 2025
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    Artigo
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  2. 2
    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country

    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country حسب Rodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Christopher J. Record, Lindsay A. Wilson, Gustavo Maximiano Alves, Natalia Dominik, Stéphanie Efthymiou, Krutik Patel, Jana Vandrovcová, Roope Männikkö, Robert D. S. Pitceathly, Cláudia Ferreira da Rosa Sobreira, Robert McFarland, Robert W. Taylor, Henry Houlden, Michael G. Hanna, Mary M. Reilly, Wilson Marques

    منشور في 2024
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    Artigo
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  3. 3
    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 حسب 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

    منشور في 2025
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    Revisão
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  4. 4
    Neuromuscular disease genetics in under-represented populations: increasing data diversity

    Neuromuscular disease genetics in under-represented populations: increasing data diversity حسب 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

    منشور في 2023
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    Artigo
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