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Browsing by Author Cobben, Jan-Maarten
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| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2016 | Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability | Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka;
Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo Graovac, Maja
 ; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace; | Article | 21a+M21a+ |