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Browsing by Author Yamamoto, Raina
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| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2025 | 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants | Bjelica, Milena; Stojadinovic, Aleksandra; Knezevic-Pogancev, Marija F; Koprivsek, Katarina M; Sass, Jorn Oliver; Gruenert, Sarah C; Wuensche, Falko; Yamamoto, Raina | Article | 22M22 |
| 2024 | Exploring the knowledge of genetics laboratories on CFTR modulator therapy eligibility: findings and reflections during external quality assessment | Laudus, Nele; Torkler, Heike; Yamamoto, Raina; Raynal, Caroline; Audrezet, Marie-Pierre; Badenas, Celia; Radojkovic, Dragica P; Seia, Manuela; Giannone, Valentina; Dequeker, Els | Conference Paper | Mp. category will be shown later |
| 2020 | Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement | Laudus, Nele; Audrézet, Marie-Pierre; Girodon, Emmanuelle; Morris, Michael A.; Radojkovic, Dragica; Raynal, Caroline; Seia, Manuela; Štambergová, Alexandra; Torkler, Heike; Yamamoto, Raina;
Dequeker, Elisabeth M. C.;
| Article | 21aM21a |