학술논문
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'학술논문'
에서 검색결과 57건 | 목록
1~20
Academic Journal
Vicente A. Yépez; German Demidov; Kornelia Ellwanger; Steven Laurie; Rebeka Luknárová; Midhuna Immaculate Joseph Maran; Thomas Hentrich; Lydia Sagath; Bart van der Sanden; Galuh Astuti; Kornelia Neveling; Laura Batlle-Masó; Danique Beijer; Felix Brechtmann; Andrés Caballero-Oteyza; Marc Dabad; Anne-Sophie Denommé-Pichon; Cenna Doornbos; Zakaria Eddafir; Berta Estévez-Arias; Ozge Aksel Kilicarslan; Ingrid H. M. Kolen; Leon Kraß; Katja Lohmann; Shubhankar Londhe; Estrella López-Martín; Kars Maassen; William Macken; Beatriz Martínez-Delgado; Davide Mei; Christian Mertes; Raffaella Minardi; Heba Morsy; Juliane S. Mueller; Daniel Natera-de Benito; Isabelle Nelson; Machteld M. Oud; Ida Paramonov; Daniel Picó; Davide Piscia; Kiran Polavarapu; Emanuele Raineri; Marco Savarese; Noor Smal; Marloes Steehouwer; Wouter Steyaert; Morris A. Swertz; Mirja Thomsen; Ana Töpf; Liedewei Van de Vondel; Gerben van der Vries; Antonio Vitobello; Carlo Wilke; Birte Zurek; Peter-Bram t’ Hoen; Leslie Matalonga; Lisenka E. L. M. Vissers; Christian Gilissen; Julia Schulze-Hentrich; Sergi Beltran; Anna Esteve-Codina; Alexander Hoischen; Julien Gagneur; Holm Graessner
Nature Genetics. 57:2361-2370
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
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
Claudia Martinez-Rios; Laura S. De Leon Benedetti; Luis Octavio Tierradentro-Garcia; Ozge Aksel Kilicarslan; Pablo Caro-Dominguez; Hansel J. Otero
Pediatric Radiology. 54:1116-1127
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
In The Lancet Neurology August 2025 24(8):667-680
Academic Journal
Pauper, Marc; Koelbel, Heike; Karakesisoglou, Iakowos; Schaenzer, Anne; Bohm, Johann; Thompson, Rachel; Kohlschmidt, Nicolai; Ringel, Bernd; Bonne, Gisele; Neuhoff, Katja; Gangfuss, Andrea; Kilicarslan, Ozge Aksel; Agullo, Sergi Beltran; Hentschel, Andreas; Schara-Schmidt, Ulrike; Lochmueller, Hanns; Polavarapu, Kiran; Roos, Andreas
Academic Journal
Kilicarslan, Ozge Aksel; Gangfuss, Andrea; Hentschel, Andreas; Koelbel, Heike; Muhmann, David; Topf, Ana; Stohr, Mareile; Chen, Lei; Horvath, Rita; Thompson, Rachel; Schara-schmidt, Ulrike; Kurth, Ingo; Lochmuller, Hanns; Kraft, Florian; Polavarapu, Kiran; Roos, Andreas
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/s41431-024-01756-y (2024)
Academic Journal
J. Robert Harkness; John H. McDermott; Shea Marsden; Peter Jamieson; Kay A. Metcalfe; Naz Khan; William L. Macken; Robert D.S. Pitceathly; Christopher J. Record; Reza Maroofian; Kloepa Kloepas; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E. Urquhart; Glenda M. Beaman; Leigh A. Demain; Adam Jackson; Alexander J.M. Blakes; Helen M. Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W. Yue; Robert W. Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert-Lo; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S. Alkuraya; Rita Horvath; Serdal Gungor; Emma Wakeling; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M. Reilly; Daimark Bennett; Raymond T. O’Keefe; William G. Newman
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, Kloepas, 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 M, Bennett, H, Lin, W-H, Adamson, A, Patel, S, Yue, W W, Taylor, R W, Reunert, J, Marquardt, T, Buchert-Lo, 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, Wakeling, E, Manzur, A, Munot, P, Matthews, R, Banka, S, Reilly, M M, Bennett, D, O’Keefe, R T & Newman, W G 2024 'Genetic Risk of Axonal Neuropathy Following Infection' medRxiv. https://doi.org/10.1101/2024.10.04.24314535
Academic Journal
Neuhoff, Katja; Kilicarslan, Ozge Aksel; Preuße, Corinna; Zaum, Ann-Kathrin; Kölbel, Heike; Lochmüller, Hanns; Schara-Schmidt, Ulrike; Polavarapu, Kiran; Roos, Andreas; Gangfuß, Andrea
Biomedicines. December, 2024, Vol. 12 Issue 12
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; Valkovicova, Radka; Haberlova, Jana; Lauerova, Barbora; Trusikova, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmuller, 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.
Academic Journal
Martinez-Rios, Claudia; De Leon Benedetti, Laura S.; Tierradentro-Garcia, Luis Octavio; Kilicarslan, Ozge Aksel; Caro-Dominguez, Pablo; Otero, Hansel J.
Academic Journal
KAVUKÇU, SALİH; ÜLGENALP, AYFER; SOYLU, ALPER; GİRAY BOZKAYA, ÖZLEM; Gursoy, SEMRA; DOĞAN, ESER; Kilicarslan, Ozge Aksel; Camlar, Secil Arslansoyu; Bozkaya, Giray
Indian Journal of Rheumatology, Vol 14, Iss 4, Pp 297-303 (2019)
Academic Journal
Randa, Cemre; Gursoy, SEMRA; GİRAY BOZKAYA, ÖZLEM; Kilicarslan, Ozge Aksel; Hazan, Filiz; ÇANKAYA, TUFAN; Ercal, Derya; ÜLGENALP, AYFER; Ataman, Esra
TURKISH JOURNAL OF MEDICAL SCIENCES. 48:911-915
Academic Journal
GİRAY BOZKAYA, ÖZLEM; Kilicarslan, Ozge Aksel; Unal, Nurettin; Ercal, Derya; Gursoy, SEMRA; BORA, ELÇİN
Erciyes Tıp Dergisi/Erciyes Medical Journal. 39:12-15
Academic Journal
Molecular Medicine Reports. 14:2150-2154
Academic Journal
Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; null, null; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Sturm, Marc; Park, Joohyun; Schütz, Leon; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kellner, Melanie; Resch, Baptist; Kolen, Ingrid; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Beijer, Danique; Heutink, Peter; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Boßelmann, Christian; Kegele, Josua; Lauerer-Braun, Robert; Lauxmann, Stephan; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; 't Hoen, Peter A. C.; Steyaert, Wouter; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Neveling, Kornelia; van der Sanden, Bart; Sagath, Lydia; Kleefstra, Tjitske; Brookes, Anthony J.; Gibson, Spencer; Riaz, Umar; Warren, Greg; Nalagandla, Sai Anuhya; Wang, Yunze Patrick; Sukumaran, Deepthi; Abadijou, Sadegh; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Couturier, Victor; Gut, Ivo Glynne; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Codina, Anna Esteve; Dabad, Marc; Gut, Marta; Raineri, Emanuele; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lucano, Caterina; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Ryba, Lukáš; Lišková, Petra; Doležalová, Pavla; Krebsová, Alice; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Bellampalli, Ravishankara; Moloney, Patrick; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Perry, Luke; Pini, Veronica; Müller, Juliane; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; de Jonghe, Peter; De Ridder, Willem; Weckhuysen, Sarah; Stamberger, Hannah; Millevert, Charissa; Smal, Noor; Nigro, Vincenzo; Morleo, Manuela; Pinelli, Michele; Banfi, Sandro; Torella, Annalaura; Zeuli, Roberta; Zanobio, Mariateresa; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Ruvolo, David; van Gijn, Marielle; Abbott, Kristin M.; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Köhler, Sebastian; Metcalfe, Alison; Moore, Richard; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Jamra, Rami Abou; Abramowicz, Marc; Kiliçarslan, Özge Aksel; Allen, Nicholas; Javier Alonso García de la Rosa, Francisco; Balestrini, Simona; Balicza, Peter; Bartolomaeus, Tobias; Başak, Ayşe Nazl; Masó, Laura Batlle; Beeson, David; Benoit, Valerie; Benson, Katherine; Sánchez, Eva Bermejo; Bijlsma, Emilia K.; Bogaert, Elke; Bourbouli, Mara; Boztug, Kaan; Brohée, Sylvain; Byrne, Susan; Garcia de Oteyza, Andrés Caballero; Capella, Gabriel; Carpancea, Evelina; Cavalleri, Gianpiero; Cazurro-Gutiérrez, Ana; Chinnery, Patrick F.; Cilio, Maria-Roberta; Ciolfi, Andrea; Claeys, Kristl; Colobran, Roger; Cordts, Isabell; Cossins, Judith; Dahan, Karin; Dallapiccola, Bruno; Delanty, Norman; Depienne, Christel; Depondt, Chantal; Dermaut, Bart; Deschauer, Marcus; Desir, Julie; Destrée, Anne; Drakos, Minas; Duerinckx, Sarah; Estevez, Berta; Evangeliou, Athanasios; Fallerini, Chiara; Ferilli, Marco; Furini, Simone; Gagneur, Julien; Ghani, Hamidah; Greally, Marie; Grimbacher, Bodo; Guerrini, Renzo; Hackman, Peter; Haimel, Matthias; Bouveret, Eva Hammar; Hemelsoet, Dimitri; Herzog, Rebecca; Hoffer, Mariette J. V.; Holinski-Feder, Elke; Horvath, Rita; Huibers, Manon; Iacomino, Michele; Johari, Mridul; Kapaki, Elisabeth; Karadurmus, Deniz; Karakaya, Mert; Kokosali, Evgenia; Korff, Christian; Krass, Leon; Lacombe, Didier; Laner, Andreas; Leavis, Helen; Lederer, Damien; Leitão, Elsa; Lochmüller, Hanns; Martín, Estrella López; Luknárová, Rebeka; Macaya, Alfons; Malaichamy, Sivasankar; Marcé-Grau, Anna; Delgado, Beatriz Martínez; Mary, Sandrine; Masclaux, Frédéric; Mathioudakis, Lambros; Maver, Ales; May, Patrick; Maystadt, Isabelle; Mei, Davide; Mertes, Christian; Meunier, Colombine; Molnar, Maria Judit; Monestier, Olivier; Moortgat, Stéphanie; Münchau, Alexander; Munell, Francina; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Reghan, Mary O.; Olimpio, Catarina; Parrini, Elena; Pauly, Martje; Pérez-Dueñas, Belén; Peterlin, Borut; Platzer, Konrad; Polavarapu, Kiran; Poppe, Bruce; De la Paz, Manuel Posada; Privitera, Flavia; Radio, Francesca Clementina; Ratnaike, Thiloka; Renieri, Alessandra; Riva, Antonella; Rooryck, Caroline; Roos, Andreas; Ruivenkamp, Claudia A. L.; Rump, Andreas; Santen, Gijs W. E.; Savarese, Marco; Scala, Marcello; Schon, Katherine; Schröck, Evelin; Scudieri, Paolo; Spilioti, Martha; Steinke-Lange, Verena; Striano, Pasquale; Sznajer, Yves; Tartaglia, Marco; Thompson, Rachel; Trimouille, Aurelien; Udd, Bjarne; Uva, Paolo; Valle, Laura; van der Veken, Lars; van Heurck, Roxane; van Montfrans, Joris; Van Nieuwenhove, Erika; Verdin, Hannah; Webb, David; Wirth, Brunhilde; Yépez, Vicente A.; Zaganas, Ioannis; Zara, Federico; Zguro, Kristina; Laurie, Steven
NPJ Genom Med
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-24 (2024)
NPJ Genomic Medicine, 9, 1, pp. 49
NPJ genomic medicine, Vol. 9, no.1, p. 49 [1-24] (2024)
Npj genomic medicine
npj Genomic Medicine, 9(1):49
Solve-RD consortium 2024, 'Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses', NPJ Genomic Medicine, vol. 9, no. 1, 49, pp. 49. https://doi.org/10.1038/s41525-024-00436-6
Academic Journal
Özge AKSEL KILIÇARSLAN; Esra ATAMAN; Semra GÜRSOY; Gürkan GÜRBÜZ; Aycan ÜNALP; Pınar GENÇPINAR; Nihal OLGAÇ DÜNDAR; Selvinaz EDİZER; Ayfer ÜLGENALP; Özlem GİRAY BOZKAYA
Turk J Med Sci
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