نتائج البحث - Rajaram Kaliyaperumal

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  1. 1
    Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

    Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy حسب N. Doorenweerd, Ahmed Mahfouz, Maaike van Putten, Rajaram Kaliyaperumal, Peter A.C. ‘t Hoen, Jos G.M. Hendriksen, Annemieke Aartsma‐Rus, Jan J.G.M. Verschuuren, Erik H. Niks, Marcel J. T. Reinders, Hermien E. Kan, Boudewijn P. F. Lelieveldt

    منشور في 2017
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    Artigo
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  2. 2
    Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

    Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer حسب Pedro Sernadela, Lorena González-Castro, Claudio Carta, Eelke van der Horst, Pedro Lopes, Rajaram Kaliyaperumal, Mark Thompson, Rachel Thompson, Núria Queralt-Rosiñach, Estrella López‐Martín, Libby Wood, Agata Robertson, Claudia Lamanna, Mette Gilling, Michael Orth, Roxana Merino-Martinez, Manuel Posada de la Paz, Domenica Taruscio, Hanns Lochmüller, Peter N. Robinson, Marco Roos, José Luís Oliveira

    منشور في 2017
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    Artigo
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  3. 3
    Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data

    Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data حسب Rajaram Kaliyaperumal, Mark D. Wilkinson, Pablo Alarcón Moreno, Nirupama Benis, Ronald Cornet, Bruna dos Santos Vieira, Michel Dumontier, César H. Bernabé, Annika Jacobsen, Clémence M. A. Le Cornec, Mario Prieto Godoy, Núria Queralt-Rosiñach, Leo J. Schultze Kool, Morris A. Swertz, Philip van Damme, K. Joeri van der Velde, Nawel Lalout, Shuxin Zhang, Marco Roos

    منشور في 2022
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    Artigo
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  4. 4
    Gateways to the FANTOM5 promoter level mammalian expression atlas

    Gateways to the FANTOM5 promoter level mammalian expression atlas حسب Marina Lizio, Jayson Harshbarger, Hisashi Shimoji, Jessica Severin, Takeya Kasukawa, Serkan Sahin, Imad Abugessaisa, Shiro Fukuda, Fumi Hori, Sachi Ishikawa-Kato, Chris Mungall, Peter Arner, J. Kenneth Baillie, Nicolas Bertin, Hidemasa Bono, Michiel de Hoon, Alexander D. Diehl, Emmanuel Dimont, Tom C. Freeman, Kaori Fujieda, Yoshihide Hayashizaki, Rajaram Kaliyaperumal, Toshiaki Katayama, Timo Lassmann, Terrence F. Meehan, Koro Nishikata, Hiromasa Ono, Michael Rehli, Albin Sandelin, Erik Schultes, Peter A.C. ‘t Hoen, Zuotian Tatum, Mark Thompson, Tetsuro Toyoda, Derek Wright, Carsten O. Daub, Masayoshi Itoh, Piero Carninci, Yoshihide Hayashizaki, Alistair R. R. Forrest, Hideya Kawaji

    منشور في 2015
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    Artigo
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  5. 5
    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases حسب Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, Carles Hernández-Ferrer, Cristina Luengo, Anastasios Papakonstantinou, Joan Protassio, Inés Martínez, Daniel Picó, Rachel Thompson, Raúl Tonda, Mónica Bayés, Gemma Bullich, Jordi Camps, Ida Paramonov, Jean-Rémi Trotta, Ángel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros‐Facer, Orion J. Buske, Andrés Cañada, José M. Fernández, Mats Hansson, Rita Horváth, Julius O.B. Jacobsen, Rajaram Kaliyaperumal, Séverine Lair, Luana Licata, Pedro Lopes, Estrella López‐Martín, Deborah Mascalzoni, Lucía Monaco, Luis Pérez Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Rieß, Peter N. Robinson, Damian Smedley, Dylan Spalding, Peter A.C. ‘t Hoen, Ana Töpf, Irina Zaharieva, Holm Graeßner, Marta Gut, Hanns Lochmüller, Sergi Beltrán

    منشور في 2022
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    Artigo
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  6. 6
    The GA4GH Phenopacket schema defines a computable representation of clinical data

    The GA4GH Phenopacket schema defines a computable representation of clinical data حسب Julius O.B. Jacobsen, Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske, Tiffany J Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Daniš, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, K. C. Kent Lloyd, Aly Khalifa, Peter Krawitz, Sebastian Köhler, Bryan Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A. McMurry, Alejandro Metke‐Jimenez, Chris Mungall, Monica Muñoz‐Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosiñach, Marco Roos, Julian Saß, Paul N. Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M. Swietlik, Sylvia Thun, Nicole Vasilevsky, Alex H. Wagner, Jeremy L. Warner, Claus Weiland, Myles Axton, Lawrence Babb, Cornelius F. Boerkoel, Bimal P. Chaudhari, Hui‐Lin Chin, Michel Dumontier, Nour Gazzaz, David Hansen, Harry Hochheiser, Veronica A. Kinsler, Hanns Lochmüller, Alexander Mankovich, Gary Saunders, Panagiotis I. Sergouniotis, Rachel Thompson, Andreas Zankl, Melissa Haendel, Peter N. Robinson

    منشور في 2022
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    Carta
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