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Browsing by Author De Jonghe, Peter
Showing results 1 to 3 of 3
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 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; Perić, Stojan Z.
Baets, Jonathan;
| Naučni članak | 21aM21a - Vodeći međunarodni časopis kategorije M21a |
| 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
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;
| Article | 21a+M21a+ |
| 2007 | Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN) | Koop, Olga; Schirmacher, Anja; Nelis, Eva; Timmerman, Vincent; De Jonghe, Peter; Ringelstein, Bernd; Milić-Rašić, Vedrana; Evrard, Philippe; Gdrtner, Jutta; Claeys, Kristl G.;
Appenzeller, Silke; Rautenstrauss, Bernd; Hiffine, Kathrin; Ramos-Arroyo, Maria A.; Wrle, Helmut; Moilanen, Jukka S.; HammanS, Simon; Kuhlenbdumer, Gregor;
| Article | 21aM21a |
