학술논문
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'학술논문'
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Academic Journal
JAAD Case Rep
JAAD Case Reports, Vol 62, Iss, Pp 146-150 (2025)
JAAD Case Reports 62(August), 146-150. (2025)
JAAD Case Reports, Vol 62, Iss, Pp 146-150 (2025)
JAAD Case Reports 62(August), 146-150. (2025)
Academic Journal
Karolina M. Stepien; Barbara K. Burton; Michael B. Bober; Philippe M. Campeau; Carolyn Ellaway; Kaustuv Bhattacharya; Nathalie Guffon; David Hinds; Abigail Hunt; Alice Lail; Shuan-Pei Lin; Martin Magner; Elaine Murphy; Pascal Reisewitz; John J. Mitchell
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)
Academic Journal
Stepien, Karolina M.; Thomas, Sophie; Hennermann, Julia B.; Lampe, Christina; Muschol, Nicole M.; Ballesta-Martínez, Maria Juliana; Cruz, Jordi; López-Rodríguez, Mónica; Barth, Anneliese; Magner, Martin; Lund, Allan M.; Plaiasu, Vasilica; Ballabeni, Andrea; Donà, Francesca; Morgan, Heather M.; Guffon, Nathalie
Orphanet Journal of Rare Diseases. 20(1)
Academic Journal
Nutrients. February, 2024, Vol. 16 Issue 5
Academic Journal
Burton, Barbara K. ; Fertek, Daniel ; Chin, Peter S. ; Ho, Carole ; Giugliani, Roberto ; van den Hout, Johanna M.P. ; Magner, Martin ; Ezgü, Fatih ; AlSayed, Moeenaldeen ; Muenzer, Joseph ; Okuyama, Torayuki ; Jones, Simon A.
In Molecular Genetics and Metabolism November 2025 146(3)
Academic Journal
Academic Journal
Morgan, Heather; Muschol, Nicole; Hennermann, Julia; Magner, Martin; Lampe, Christina; Lopez-Rodriguez, Monica; Juríčková, Katarína; Garavaglia, Daniela; Donati, Chiara; Fichera, Vito; Guffon, Nathalie
Genetics in Medicine Open. 3
Academic Journal
Diaz-Ordoñez, Lorena; Duque-Cordoba, Paola Andrea; Silva-Cuero, Katherine; Gutierrez-Medina, Juan David; Saldarriaga, Wilmar; Murgašová, Lenka; Magner, Martin; Candelo, Estephania; Pachajoa, Harry
Medicine. Jan 10, 2025 104(2):e41128-e41128
Academic Journal
Guffon, Nathalie ; Burton, Barbara K. ; Ficicioglu, Can ; Magner, Martin ; Gil-Campos, Mercedes ; Lopez-Rodriguez, Monica A. ; Jayakar, Parul ; Lund, Allan M. ; Tal, Galit ; Garcia-Ortiz, Jose Elias ; Stepien, Karolina M. ; Ellaway, Carolyn ; Al-Hertani, Walla ; Giugliani, Roberto ; Cathey, Sara S. ; Hennermann, Julia B. ; Lampe, Christina ; McNutt, Markey ; Lagler, Florian B. ; Scarpa, Maurizio ; Sutton, V. Reid ; Muschol, Nicole
In Molecular Genetics and Metabolism August 2024 142(4)
Academic Journal
Caorsi, Roberta ; Consolaro, Alessandro ; Speziani, Camilla ; Sozeri, Betul ; Ulu, Kadir ; Faugier-Fuentes, Enrique ; Menchaca-Aguayo, Hector ; Ozen, Seza ; Sener, Seher ; Akhter Rahman, Shahana ; Imnul Islam, Mohammad ; Haerynck, Filomeen ; Simonini, Gabriele ; Mastri, Mariel Viviana ; Avcin, Tadej ; Sršen, Saša ; de Albuquerque Pedrosa Fernandes, Taciana ; Stanevicha, Valda ; Vojinovic, Jelena ; Sobh, Ali ; Fingerhutova, Sarka ; Minxova, Lenka ; Gagro, Alenka ; Rodrigues Fonseca, Adriana ; Pandya, Devang ; Varbanova, Boriana ; Sánchez-Manubens, Judith ; Ganeva, Margarita ; Montin, Davide ; Boyarchuk, Oksana ; Minghini, Andrea ; Bracaglia, Claudia ; Brogan, Paul ; Candotti, Fabio ; Cattalini, Marco ; Meyts, Isabelle ; Minoia, Francesca ; Taddio, Andrea ; Wouters, Carine ; De Benedetti, Fabrizio ; Bovis, Francesca ; Ravelli, Angelo ; Ruperto, Nicolino ; Gattorno, Marco ; Bilginer, Yelda ; Laila, Kamrul ; Islam, Mohammed Mahbubul ; Meertens, Bram ; Hoste, Levi ; Dehoorne, Joke ; Schelstraete, Petra ; Vandekerckhove, Kristof ; Willems, Jef ; Matthijs, Inge ; Filocamo e Gisella Beatrice Beretta, Giovanni ; Magalhaes, Claudia Saad ; Chubata, Oksana ; Ricci, Francesca ; Vukovic, Antonija ; Temelkova, Katya ; Avramovic, Mojca Zajc ; Emersic, Nina ; Bizjak, Masa ; Vesel, Tina ; Rodrigues, Marta Felix ; Gasparello de Almeida, Rozana ; Lukjanovica, Kristine ; Elnagdy, Marwa H. ; Soliman, Ahmed ; Terifajova, Eva ; Brejchova, Ivana ; Magner, Martin ; Myrup, Charlotte ; Vougiouka, Olga ; Jelusic, Marija ; La Torre, Francesco ; Rigante, Donato ; Maggio, Maria Cristina ; Verdoni, Lucio ; Rubio-Perez, Nadina ; Cornejo, Gabriel Vega ; Villarreal Trevino, Ana Victoria ; Brito, Iva ; Oliveira-Ramos, Filipa ; Alexeeva, Ekaterina ; Chasnyk, Vyacheslav ; Arkachaisri, Thaschawee ; Boyko, Yaryna ; Vyzhga, Yulia ; Samsonenko, Svitlana
In Journal of Autoimmunity July 2024 147
Academic Journal
Adam Klocperk; Marketa Bloomfield; Zuzana Parackova; Ludovic Aillot; Jiri Fremuth; Lumir Sasek; Jan David; Filip Fencl; Aneta Skotnicova; Katerina Rejlova; Martin Magner; Ondrej Hrusak; Anna Sediva
Molecular and Cellular Pediatrics, Vol 10, Iss 1, Pp 1-8 (2023)
Academic Journal
Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M
Hiatt, S M, Trajkova, S, Sebastiano, M R, Partridge, E C, Abidi, F E, Anderson, A, Ansar, M, Antonarakis, S E, Azadi, A, Bachmann-Gagescu, R, Bartuli, A, Benech, C, Berkowitz, J L, Betti, M J, Brusco, A, Cannon, A, Caron, G, Chen, Y, Cochran, M E, Coleman, T F, Crenshaw, M M, Cuisset, L, Curry, C J, Darvish, H, Demirdas, S, Descartes, M, Douglas, J, Dyment, D A, Elloumi, H Z, Ermondi, G, Faoucher, M, Farrow, E G, Felker, S A, Fisher, H, Hurst, A C E, Joset, P, Kelly, M A, Kmoch, S, Leadem, B R, Lyons, M J, Macchiaiolo, M, Magner , M, Mandrile, G, Mattioli, F, McEown, M, Meadows, S K, Medne, L, Meeks, N J L, Montgomery, S, Napier, M P, Natowicz, M, Newberry, K M, Niceta, M, Noskova, L, Nowak, C B, Noyes, A G, Osmond, M, Prijoles, E J, Pugh, J, Pullano, V, Quélin, C, Rahimi-Aliabadi, S, Rauch, A, Redon, S, Reymond, A, Schwager, C R, Sellars, E A, Scheuerle, A E, Shukarova-Angelovska, E, Skraban, C, Stolerman, E, Sullivan, B R, Tartaglia, M, Thiffault, I, Uguen, K, Umaña, L A, van Bever, Y, van der Crabben, S N, van Slegtenhorst, M A, Waisfisz, Q, Washington, C, Rodan, L H, Myers, R M & Cooper, G M 2023, 'Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype', American journal of human genetics, vol. 110, no. 2, pp. 215-227. https://doi.org/10.1016/j.ajhg.2022.12.007
Academic Journal
Murgasova, Lenka; Hulkova, Helena; Baresova, Veronika; Jurovcik, Michal; Stritesky, Jan; Jurickova, Katarina; Magner, Martin; Sikora, Jakub
Virchows Archiv: European Journal of Pathology. 486(3):643-643
Academic Journal
Ficicioglu, Can; Muschol, Nicole; Burton, Barbara; Magner, Martin; Gil-Campos, Mercedes; Rodriguez, Monica Lopez; Jayakar, Parul; Lund, Allan; Tal, Galit; Garcia-Ortiz, Jose Elias; Stepien, Karolina; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara; Hennermann, Julia; Lampe, Christina; McNutt, Markey; Lagler, Florian; Scarpa, Maurizio; Sutton, Vernon; Guffon, Nathalie
Genetics in Medicine Open. 2
Academic Journal
Murgasova, Lenka; Hulkova, Helena; Baresova, Veronika; Jurovcik, Michal; Stritesky, Jan; Jurickova, Katarina; Magner, Martin; Sikora, Jakub
Virchows Archiv: European Journal of Pathology. :1-6
Academic Journal
Cediel, Maria Lucia ; Stawarski, Michal ; Blanc, Xavier ; Nosková, Lenka ; Magner, Martin ; Platzer, Konrad ; Gburek-Augustat, Janina ; Baldridge, Dustin ; Constantino, John N. ; Ranza, Emmanuelle ; Bettler, Bernhard ; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 6 October 2022 109(10):1885-1893
Academic Journal
Mitchell, John J. ; Burton, Barbara K. ; Bober, Michael B. ; Campeau, Philippe M. ; Cohen, Shelda ; Dosenovic, Sara ; Ellaway, Carolyn ; Bhattacharya, Kaustuv ; Guffon, Nathalie ; Hinds, David ; Lail, Alice ; Lin, Shuan-Pei ; Magner, Martin ; Raiman, Julian ; Schwartz-Sagi, Liat ; Stepien, Karolina M.
In Molecular Genetics and Metabolism September-October 2022 137(1-2):164-172
Academic Journal
Martin Magner; Zsuzsanna Almássy; Zoran Gucev; Beata Kieć-Wilk; Vasilica Plaiasu; Anna Tylki-Szymańska; Dimitrios Zafeiriou; Ioannis Zaganas; Christina Lampe
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Academic Journal
Anna Tylki-Szymańska; Zsuzsanna Almássy; Violetta Christophidou-Anastasiadou; Daniela Avdjieva-Tzavella; Ingeborg Barisic; Rimante Cerkauskiene; Goran Cuturilo; Maja Djiordjevic; Zoran Gucev; Anna Hlavata; Beata Kieć-Wilk; Martin Magner; Ivan Pecin; Vasilica Plaiasu; Mira Samardzic; Dimitrios Zafeiriou; Ioannis Zaganas; Christina Lampe
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Academic Journal
Saho, Robert; Formankova, Renata; Eisengart, Julie B.; Lund, Allan Meldgaard; Videbaek, Cecilie; Gurbuz, Berrak Bilginer; Ozbek, Namik Yasar; Al Jasmi, Fatma; Jesina, Pavel; Feillet, Francois; Pochon, Cecile; Guemann, Anne-Sophie; Alsayed, Moeenaldeen; Laktina, Sabine; Ucar, Sema Kalkan; Aksoylar, Serap; Lund, Troy C.; Orchard, Paul John; Eminoglu, Fatma Tuba; Ileri, Talia; Kasapkara, Cigdem Seher; Yesilipek, Akif; Tuncel, Ali Tunc; Schulz, Ansgar; Jurickova, Katarina; Hlavata, Anna; Santoro, Lucia; Magner, Martin
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