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Преглед према Аутор Baets, Jonathan
Приказ резултата 1 до 5 од 5
| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2021 | Biallelic ADPRHL2 mutations in complex neuropathy affect ADP ribosylation and DNA damage response | Beijer, Danique; Agnew, Thomas; Rack, Johannes Gregor Matthias; Prokhorova, Evgeniia; Deconinck, Tine; Ceulemans, Berten; Peric, Stojan Z  ; Milic-Rasic, Vedrana M; De, Jonghe Peter; Ahel, Ivan;
Baets, Jonathan;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2018 | Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population | Johnson, Katherine; De, Ridder Willem; Töpf, Ana; Bertoli, Marta; Phillips, Lauren; De, Jonghe Peter; Baets, Jonathan; Deconinck, Tine; Stojanović, Vidosava  ; Perić, Stojan ;
Durmus, Hacer; Jamal-Omidi, Shirin; Nafissi, Shahriar; Mongini, Tiziana; Łusakowska, Anna; Busby, Mark; Miller, James; Norwood, Fiona; Hudson, Judith; Barresi, Rita; Lek, Monkol; MacArthur, Daniel G; Straub, Volker;
| Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2012 | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia | Zimoń, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De, Vriendt Els; Nikodinovic, Jelena; Parman, Yesim; Battaloǧlu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo;
Auer-Grumbach, Michaela; De, Rijk Peter; Petersen, Britt-Sabina; Müller, Thomas; Fransen, Erik; Van, Damme Philip; Löscher, Wolfgang N; Barišić, Nina; Mitrovic, Zoran; Previtali, Stefano C; Topaloǧlu, Haluk; Bernert, Günther; Beleza-Meireles, Ana; Todorovic, Slobodanka; Savić Pavićević, Dušanka
; Ishpekova, Boryana; Lechner, Silvia; Peeters, Kristien; Ooms, Tinne; Hahn, Angelika F; Züchner, Stephan; Timmerman, Vincent; Van, Dijck Patrick; Milić Rašić, Vedrana ; Janecke, Andreas R; De, Jonghe Peter; Jordanova, Albena; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2008 | Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies - a genotype-phenotype correlation study | Dierick, Ines; Baets, Jonathan; Irobi, Joy; Milić-Rašić, Vedrana M. | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2014 | Truncating and Missense Mutations in IGHMBP2 Cause Charcot-Marie Tooth Disease Type 2 | Cottenie, Ellen; Kochanski, Andrzej; Jordanova, Albena; Bansagi, Boglarka; Zimon, Magdalena; Horga, Alejandro; Jaunmuktane, Zane; Saveri, Paola; Rasic, Vedrana Milic; Baets, Jonathan;
Bartsakoulia, Marina; Ploski, Rafal; Teterycz, Pawel; Nikolić, Miloš
; Quinlivan, Ros; Laura, Matilde; Sweeney, Mary G.; Taroni, Franco; Lunn, Michael P.; Moroni, Isabella; Gonzalez, Michael; Hanna, Michael G.; Bettencourt, Conceicao; Chabrol, Elodie; Franke, Andre; von Au, Katja; Schilhabel, Markus; Kabzińska, Dagmara; Hausmanowa-Petrusewicz, Irena; Brandner, Sebastian; Lim, Siew Choo; Song, Haiwei; Choi, Byung-Ok; Horvath, Rita; Chung, Ki-Wha; Zuchner, Stephan; Pareyson, Davide; Harms, Matthew; Reilly, Mary M.; Houlden, Henry; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |