Autori: Yamamoto Raina
| Naslov | 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants (Article; Early Access) |
| Autori | Bjelica Milena Stojadinovic Aleksandra Knezevic-Pogancev Marija Koprivsek Katarina Sass Jorn Oliver Gruenert Sarah C Wuensche Falko Yamamoto Raina |
| Info | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, (2025), vol. br. , str. - |
| Projekat | MVZ Dr. Eberhard & Partner Dortmund [514177501, 528562393-FIP26, 538669957]; Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: |
| Naslov | Exploring the knowledge of genetics laboratories on CFTR modulator therapy eligibility: findings and reflections during external quality assessment (Meeting Abstract) |
| Autori | Laudus Nele Torkler Heike Yamamoto Raina Raynal Caroline Audrezet Marie-Pierre Badenas Celia Radojkovic Dragica P Seia Manuela Giannone Valentina Dequeker Els |
| Info | EUROPEAN JOURNAL OF HUMAN GENETICS, (2024), vol. 32 br. , Suppl. 1, str. 635-636 |
| Projekat | Research Foundation Flanders (FWO) [1S65121N] |
| Ispravka | ISI/Web of Science Elečas Rang časopisa |
| Naslov | Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement (Article) |
| Autori | Laudus Nele Audrezet Marie-Pierre Girodon Emmanuelle Morris Michael A Radojkovic Dragica P Raynal Caroline Seia Manuela Stambergova Alexandra Torkler Heike Yamamoto Raina Dequeker Elisabeth MC |
| Info | JOURNAL OF CYSTIC FIBROSIS, (2020), vol. 19 br. 6, str. 969-974 |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
