학술논문
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'학술논문'
에서 검색결과 163건 | 목록
1~20
Academic Journal
Gaens, Noah ; Souche, Erika ; Kivisild, Toomas ; Geypen, Jan ; Seneca, Sara ; Calafell, Francesc ; Larmuseau, Maarten H.D.
In Forensic Science International: Genetics February 2026 81
Academic Journal
Kentache, Takfarinas ; Althoff, Charlotte R. ; Caligiore, Francesco ; Souche, Erika ; Schulz, Céline ; Graff, Julie ; Pieters, Eline ; Stanley, Pamela ; Contessa, Joseph N. ; Van Schaftingen, Emile ; Matthijs, Gert ; Foulquier, François ; Bommer, Guido T. ; Wilson, Matthew P.
In Journal of Biological Chemistry December 2024 300(12)
Academic Journal
Sleyp, Yoeri ; Valenzuela, Irene ; Accogli, Andrea ; Ballon, Katleen ; Ben-Zeev, Bruria ; Berkovic, Samuel F. ; Broly, Martin ; Callaerts, Patrick ; Caylor, Raymond C. ; Charles, Perrine ; Chatron, Nicolas ; Cohen, Lior ; Coppola, Antonietta ; Cordeiro, Dawn ; Cuccurullo, Claudia ; Cuscó, Ivon ; Janette diMonda ; Duran-Romaña, Ramon ; Ekhilevitch, Nina ; Fernández-Alvarez, Paula ; Gordon, Christopher T. ; Isidor, Bertrand ; Keren, Boris ; Lesca, Gaetan ; Maljaars, Jarymke ; Mercimek-Andrews, Saadet ; Morrow, Michelle M. ; Muir, Alison M. ; Rousseau, Frederic ; Salpietro, Vincenzo ; Scheffer, Ingrid E. ; Schnur, Rhonda E. ; Schymkowitz, Joost ; Souche, Erika ; Steyaert, Jean ; Stolerman, Elliot S. ; Vengoechea, Jaime ; Ville, Dorothée ; Washington, Camerun ; Weiss, Karin ; Zaid, Rinat ; Sadleir, Lynette G. ; Mefford, Heather C. ; Peeters, Hilde
In Genetics in Medicine December 2022 24(12):2464-2474
Academic Journal
Wilson, Matthew P. ; Garanto, Alejandro ; Pinto e Vairo, Filippo ; Ng, Bobby G. ; Ranatunga, Wasantha K. ; Ventouratou, Marina ; Baerenfaenger, Melissa ; Huijben, Karin ; Thiel, Christian ; Ashikov, Angel ; Keldermans, Liesbeth ; Souche, Erika ; Vuillaumier-Barrot, Sandrine ; Dupré, Thierry ; Michelakakis, Helen ; Fiumara, Agata ; Pitt, James ; White, Susan M. ; Lim, Sze Chern ; Gallacher, Lyndon ; Peters, Heidi ; Rymen, Daisy ; Witters, Peter ; Ribes, Antonia ; Morales-Romero, Blai ; Rodríguez-Palmero, Agustí ; Ballhausen, Diana ; de Lonlay, Pascale ; Barone, Rita ; Janssen, Mirian C.H. ; Jaeken, Jaak ; Freeze, Hudson H. ; Matthijs, Gert ; Morava, Eva ; Lefeber, Dirk J.
In The American Journal of Human Genetics 4 November 2021 108(11):2130-2144
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Academic Journal
Geysens, Mathilde; Huremagic, Benjamin; Souche, Erika; Breckpot, Jeroen; Devriendt, Koenraad; Peeters, Hilde; Van Buggenhout, Griet; Van Esch, Hilde; Van Den Bogaert, Kris; Vermeesch, Joris Robert
Academic Journal
Ngole, Mamy; Mbayabo, Gloire; Lumbala, Paul; Race, Valerie; Mvuama, Nono; Deman, Stephanie; Souche, Erika; Lukusa, Prosper Tshilobo; Van Geet, Chris; Devriendt, Koenraad; Matthijs, Gert; Lumaka, Aimé; Cleynen, Isabelle
Academic Journal
Raynor, Alexandre; de Sainte‐Agathe, Jean‐Madeleine; Post, Merel A.; Barth, Magalie; Zijlstra, Fokje; Huijben, Karin; Kouri, Ioanna; Couasnard, Alexis; Bellenda, Paola; Dupré, Thierry; Souche, Erika; Lebredonchel, Elodie; Cholet, Sophie; Cantaloube, Isabelle; Ratier, Ameetha; Jacquin, Elise; Peoc'h, Katell; Fenaille, François; Matthijs, Gert; Jaeken, Jaak
Journal of Inherited Metabolic Disease; Nov2025, Vol. 48 Issue 6, p1-15, 15p
Academic Journal
Zhao, Yan; Tsuiko, Olga; Jatsenko, Tatjana; Peeters, Greet; Souche, Erika; Geysens, Mathilde; Dimitriadou, Eftychia; Vanhie, Arne; Peeraer, Karen; Debrock, Sophie; Van Esch, Hilde; Vermeesch, Joris Robert
Nucleic Acids Research; 4/11/2025, Vol. 53 Issue 6, p1-15, 15p
Academic Journal
Soto, José Luis ; Blanco, Ignacio ; Díez, Orland ; García Planells, Javier ; Lorda, Isabel ; Matthijs, Gert ; Robledo, Mercedes ; Souche, Erika ; Lázaro, Conxi
In Medicina Clínica (English Edition) 23 July 2018 151(2):80-80
Academic Journal
Soto, José Luis ; Blanco, Ignacio ; Díez, Orland ; García Planells, Javier ; Lorda, Isabel ; Matthijs, Gert ; Robledo, Mercedes ; Souche, Erika ; Lázaro, Conxi
In Medicina Clinica 23 July 2018 151(2):80-80
Academic Journal
Verstockt, Sare; Hannes, Laurens; Jans, Deborah Sarah; Deman, Stephanie; Souche, Erika; van der Werf, Ilse; Vandermeulen, Liv; Lobaton, Triana; Laukens, Debby; Verstockt, Bram; Houdt, Jeroen Van; Hoischen, Alexander; Vermeire, Séverine; Cleynen, Isabelle
Inflammatory Bowel Diseases; Mar2025, Vol. 31 Issue 3, p786-799, 14p
Academic Journal
Vervoort, Lisanne; Dierckxsens, Nicolas; Sousa Santos, Marta; Meynants, Senne; Souche, Erika; Cools, Ruben; Heung, Tracy; Devriendt, Koen; Peeters, Hilde; McDonald-McGinn, Donna M.; Swillen, Ann; Breckpot, Jeroen; Emanuel, Beverly S.; Van Esch, Hilde; Bassett, Anne S.; Vermeesch, Joris R.
Academic Journal
Odrzywolski, Adrian; Tüysüz, Beyhan; Debeer, Philippe; Souche, Erika; Voet, Arnout; Dimitrov, Boyan; Krzesińska, Paulina; Vermeesch, Joris Robert; Tylzanowski, Przemko
Academic Journal
Van Weehaeghe, Donatienne; Koole, Michel; Schmidt, Mark E.; Deman, Stephanie; Jacobs, Andreas H.; Souche, Erika; Serdons, Kim; Sunaert, Stefan; Bormans, Guy; Vandenberghe, Wim; Van Laere, Koen
Academic Journal
Verstockt, Sare; Hannes, Laurens; Deman, Stephanie; Wollants, Willem-Jan; Souche, Erika; Verstockt, Bram; van der Werf, Ilse; Ferrante, Marc; Vermeire, Severine; Cleynen, Isabelle
In Gastroenterology May 2020 158(6) Supplement 1:S
Academic Journal
Wilson, Matthew P; Durin, Zoé; Unal, Özlem; Ng, Bobby G; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gündüz, Mehmet; Köse, Gülşen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H; Jaeken, Jaak; Foulquier, François; Matthijs, Gert
Human Molecular Genetics; 8/1/2022, Vol. 31 Issue 15, p2571-2581, 11p
Academic Journal
Wilson, Matthew P.; Quelhas, Dulce; Leão‐Teles, Elisa; Sturiale, Luisa; Rymen, Daisy; Keldermans, Liesbeth; Race, Valérie; Souche, Erika; Rodrigues, Esmeralda; Campos, Teresa; Van Schaftingen, Emile; Foulquier, François; Garozzo, Domenico; Matthijs, Gert; Jaeken, Jaak
JIMD Reports. March, 2021, Vol. 58 Issue 1, p122, 7 p.
Academic Journal
Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Yoo D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Dishuck PC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Koundinya N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Souche E; Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.; Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Chan DD; Terry Fox Laboratory, BC Cancer Research Institute, Vancouver, BC, Canada.; Leung TY; Terry Fox Laboratory, BC Cancer Research Institute, Vancouver, BC, Canada.; Santos MS; Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.; Meynants S; Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.; Swillen A; Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium.; Breckpot J; Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium.; Tsapalou V; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Hasenfeld P; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Korbel JO; European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.; Lansdorp PM; Terry Fox Laboratory, BC Cancer Research Institute, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Vermeesch JR; Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.; Department of Human Genetics, Centre for Human Genetics, University Hospitals Leuven, Leuven, 3000, Belgium.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Academic Journal
Ardeshirdavani, Amin; Souche, Erika; Dehaspe, Luc; Van Houdt, Jeroen; Vermeesch, Joris Robert; Moreau, Yves
Academic Journal
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[AR] Souche, Erika
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