학술논문
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'학술논문'
에서 검색결과 683건 | 목록
1~20
Academic Journal
Harkness, J. Robert; McDermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D.S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J.M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovičová, Radka; Haberlová, Jana; Lauerová, Barbora; Trúsiková, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmüller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; AlMuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'Keefe, Raymond T.; Newman, William G.
Harkness, J R, McDermott, J H, Marsden, S, Jamieson, P, Metcalfe, K A, Khan, N, Macken, W L, Pitceathly, R D S, Record, C J, Maroofian, R, Kleopa, K, Christodoulou, K, Sabir, A, Islam, L, Santra, S, Durmusalioglu, E A, Atik, T, Isik, E, Cogulu, O, Urquhart, J E, Beaman, G M, Demain, L A, Jackson, A, Blakes, A J M, Byers, H J, Bennett, H, Lin, W H, Adamson, A, Patel, S, Yue, W W, Taylor, R W, Reunert, J, Marquardt, T, Buchert, R, Haack, T, Losch, H, Ryba, L, Lassuthova, P, Valkovičová, R, Haberlová, J, Lauerová, B, Trúsiková, E, Polavarapu , K, Kilicarslan, O A, Lochmüller, H, Zamani, M, Chamanrou, N, Shariati, G, Sadeghian, S, Azizimalamiri, R, Maddirevula, S, AlMuhaizea, M, Alkuraya, F S, Horvath, R, Gungor, S, Manzur, A, Munot, P, Matthews, R, Banka, S, Reilly, M M, Bennett, D, O'Keefe, R T & Newman, W G 2025, 'Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants : a case series', The Lancet Neurology, vol. 24, no. 8, pp. 667-680. https://doi.org/10.1016/S1474-4422(25)00198-X
Academic Journal
Ratnaike, Thiloka E.; Kule, M. Eren; Paramonov, Ida; Matalonga, Leslie; Polavarapu, Kiran; Olimpio, Catarina; Horváth, Rita
European Journal of Human Genetics. :1-9
Academic Journal
Yépez, Vicente A.; Demidov, German; Ellwanger, Kornelia; Laurie, Steven; Luknárová, Rebeka; Joseph Maran, Midhuna Immaculate; Hentrich, Thomas; Sagath, Lydia; van der Sanden, Bart; Astuti, Galuh; Neveling, Kornelia; Batlle-Masó, Laura; Beijer, Danique; Brechtmann, Felix; Caballero-Oteyza, Andrés; Dabad, Marc; Denommé-Pichon, Anne-Sophie; Doornbos, Cenna; Eddafir, Zakaria; Estévez-Arias, Berta; Kilicarslan, Ozge Aksel; Kolen, Ingrid H. M.; Kraß, Leon; Lohmann, Katja; Londhe, Shubhankar; López-Martín, Estrella; Maassen, Kars; Macken, William; Martínez-Delgado, Beatriz; Mei, Davide; Mertes, Christian; Minardi, Raffaella; Morsy, Heba; Mueller, Juliane S.; Natera-de Benito, Daniel; Nelson, Isabelle; Oud, Machteld M.; Paramonov, Ida; Picó, Daniel; Piscia, Davide; Polavarapu, Kiran; Raineri, Emanuele; Savarese, Marco; Smal, Noor; Steehouwer, Marloes; Steyaert, Wouter; Swertz, Morris A.; Thomsen, Mirja; Töpf, Ana; Van de Vondel, Liedewei; van der Vries, Gerben; Vitobello, Antonio; Wilke, Carlo; Zurek, Birte; t’ Hoen, Peter-Bram; Matalonga, Leslie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Schulze-Hentrich, Julia; Beltran, Sergi; Esteve-Codina, Anna; Hoischen, Alexander; Gagneur, Julien; Graessner, Holm
Nature Genetics. 57(10):2361-2370
Academic Journal
Keerthipriya, Muddasu Suhasini; Kotambail, Ananthapadmanabha; Deekshitha, Madhusudhan; Mahima, R.; Ramyashree, M. B.; Rao, Bhoomika M.; Biswas, Purbasha; Baskar, Dipti; Balaji, Peneti; Mehta, Mugdha; Gray, Olivia; Wasik, Kaja A.; Emde, Anne-Katrin; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Reddy, Pradeep; Thomas, Priya Treesa; Nashi, Saraswati; Arunachal, Gautham; Vengalil, Seena; Nalini, Atchayaram
Journal of Neurology. 273(1)
Academic Journal
Vengalil, Seena; Boddu, Vijaykumar; Kulanthaivelu, Karthik; Baskar, Dipti; Nashi, Saraswati; Pruthi, Nupur; Bhargav, Hemant; Uppar, Alok M; Prasad, Chandrajit; Kotra, Madhulika; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Nalini, Atchayaram
Ann Indian Acad Neurol
Academic Journal
Baskar, Dipti; Tumulu, Seetam Kumar; Polavarapu, Kiran; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Vengalil, Seena; Nashi, Saraswati; Nittur, Vidya; Arunachal, Gautham; Saini, Jitender; Lochmuller, Hanns; Nalini, Atchayaram
Neuromuscular Disorders. 58
Academic Journal
Yépez, Vicente A.; Demidov, German; Ellwanger, Kornelia; Laurie, Steven; Luknárová, Rebeka; Joseph Maran, Midhuna Immaculate; Hentrich, Thomas; Sagath, Lydia; van der Sanden, Bart; Astuti, Galuh; Neveling, Kornelia; Batlle-Masó, Laura; Beijer, Danique; Brechtmann, Felix; Caballero-Oteyza, Andrés; Dabad, Marc; Denommé-Pichon, Anne-Sophie; Doornbos, Cenna; Eddafir, Zakaria; Estévez-Arias, Berta; Kilicarslan, Ozge Aksel; Kolen, Ingrid H. M.; Kraß, Leon; Lohmann, Katja; Londhe, Shubhankar; López-Martín, Estrella; Maassen, Kars; Macken, William; Martínez-Delgado, Beatriz; Mei, Davide; Mertes, Christian; Minardi, Raffaella; Morsy, Heba; Mueller, Juliane S.; Natera-de Benito, Daniel; Nelson, Isabelle; Oud, Machteld M.; Paramonov, Ida; Picó, Daniel; Piscia, Davide; Polavarapu, Kiran; Raineri, Emanuele; Savarese, Marco; Smal, Noor; Steehouwer, Marloes; Steyaert, Wouter; Swertz, Morris A.; Thomsen, Mirja; Töpf, Ana; Van de Vondel, Liedewei; van der Vries, Gerben; Vitobello, Antonio; Wilke, Carlo; Zurek, Birte; t’ Hoen, Peter-Bram; Matalonga, Leslie; Vissers, Lisenka E. L. M.; Gilissen, Christian; Schulze-Hentrich, Julia; Beltran, Sergi; Esteve-Codina, Anna; Hoischen, Alexander; Gagneur, Julien; Graessner, Holm
Nature Genetics. 58(1):231-231
Academic Journal
Aksel Kilicarslan, Ozge; Gangfuß, Andrea; Kölbel, Heike; Muhmann, David; Polavarapu, Kiran; Thompson, Rachel; Schmitt, Linda-Isabell; Lessard, Lola; Chen, Lei; Eisenkölbl, Astrid; Schara-Schmidt, Ulrike; Hentschel, Andreas; Lochmüller, Hanns; Roos, Andreas
Journal of Clinical Medicine. December, 2025, Vol. 14 Issue 24
Academic Journal
Chawla, Tanushree; Baskar, Dipti; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Nashi, Saraswati; Vengalil, Seena; Kulanthaivelu, Karthik; Saini, Jitender; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Nandeesh, Bevinahalli Nanjegowda; Nalini, Atchayaram
Annals of Indian Academy of Neurology. March-April, 2025, Vol. 28 Issue 2, p182, 7 p.
Academic Journal
Berta Estévez-Arias; Leslie Matalonga; Delia Yubero; Kiran Polavarapu; Anna Codina; Carlos Ortez; Laura Carrera-García; Jesica Expósito-Escudero; Cristina Jou; Stefanie Meyer; Ozge Aksel Kilicarslan; Alberto Aleman; Rachel Thompson; Rebeka Luknárová; Anna Esteve-Codina; Marta Gut; Steven Laurie; German Demidov; Vicente A. Yépez; Sergi Beltran; Julien Gagneur; Ana Topf; Hanns Lochmüller; Andres Nascimento; Janet Hoenicka; Francesc Palau; Daniel Natera-de Benito
Eur. J. Hum. Genet., DOI: 10.1038/s41431-024-01699-4 (2024)
Academic Journal
Srivastava, Kosha; Baskar, Dipti; Vengalil, Seena; Nashi, Saraswati; Menon, Deepak; Ganji, Suma R.; Sanka, Sai B.; Polavarapu, Kiran; Rao, Bhoomika M; Arunachal, Gautham; Nalini, Atchayaram
Neurology India. March-April, 2025, Vol. 73 Issue 2, p352, 4 p.
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Conference
Maharana, Sarthak Kumar; Illa, Aravind; Mannem, Renuka; Belur, Yamini; Shetty, Preetie; Kumar, Veeramani Preethish; Vengalil, Seena; Polavarapu, Kiran; Atchayaram, Nalini; Ghosh, Prasanta Kumar
ICASSP 2021 - 2021 IEEE International Conference on Acoustics, Speech and Signal Processing (ICASSP) Acoustics, Speech and Signal Processing (ICASSP), ICASSP 2021 - 2021 IEEE International Conference on. :6458-6462 Jun, 2021
Academic Journal
Girija, Manu Santhappan; Menon, Deepak; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Vengalil, Seena; Nashi, Saraswati; Keertipriya, Madassu; Bardhan, Mainak; Thomas, Priya Treesa; Kiran, Valasani Ravi; Nishadham, Vikas; Sadasivan, Arun; Huddar, Akshata; Unnikrishnan, Gopi Krishnan; Barthur, Ashita; Nalini, Atchayaram
Annals of Indian Academy of Neurology. Sept-Oct, 2024, Vol. 27 Issue 5, p552, 6 p.
Academic Journal
Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. 31(2):478-489
Academic Journal
Arjun, Krishnamurthy; Inbaraj, Ganagarajan; Meghana, Adoor; Preethish-Kumar, Veeramani; John, Anu P.; Polavarapu, Kiran; B S, Krishna Prasad; Nandeesh, B.N.; Nandan, Chandregowda; Kramer, Boris W.; Steinbusch, Harry W.M.; Nalini, Atchayaram; Udupa, Kaviraja; Sathyaprabha, Talakad N.
Journal of Electrocardiology. 91
Academic Journal
Girija, Manu S.; Menon, Deepak; Polavarapu, Kiran; Preethish-Kumar, Veeramani; Vengalil, Seena; Nashi, Saraswati; Keertipriya, Madassu; Bardhan, Mainak; Thomas, Priya T.; Kiran, Valasani R.; Nishadham, Vikas; Sadasivan, Arun; Huddar, Akshata; Unnikrishnan, Gopi K.; Inbaraj, Ganagarajan; Krishnamurthy, Arjun; Kramer, Boris W.; Sathyaprabha, Talakad N.; Nalini, Atchayaram
Ann Indian Acad Neurol
Annals of Indian Academy of Neurology, Vol 27, Iss 1, Pp 53-57 (2024)
Annals of Indian Academy of Neurology, Vol 27, Iss 1, Pp 53-57 (2024)
Academic Journal
Harikrishna, Ganaraja Valakunja; Padmanabha, Hansashree; Polavarapu, Kiran; Anjanappa, Ram Murthy; Preethish-Kumar, Veeramani; Nandeesh, Bevinahalli Nanjegowda; Vengalil, Seena; Nashi, Saraswati; Baskar, Dipti; Thomas, Aneesha; Bardhan, Mainak; Arunachal, Gautham; Menon, Deepak; Sanka, Sai Bhargava; Manjunath, Nisha; Nalini, Atchayaram
J Neuromuscul Dis
Academic Journal
Olimpio, Catarina; Paramonov, Ida; Matalonga, Leslie; Laurie, Steven; Schon, Katherine; Polavarapu, Kiran; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, H.; Chinnery, Patrick F.; Horvath, Rita
J Neuromuscul Dis
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[검색어] Polavarapu, Kiran
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