Autori: Schiffmann Raphael
| Naslov | Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature (Review) |
| Autori | Potic Ana D Perrier Stefanie Radovic Tijana Gavrilovic Svetlana Ostojic Jelena V Tran Luan T Thiffault Isabelle Pastinen Tomi Schiffmann Raphael Bernard Genevieve |
| Info | ORPHANET JOURNAL OF RARE DISEASES, (2023), vol. 18 br. 1, str. - |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa |
| Naslov | Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy (Article) |
| Autori | Potic Ana D Popovic Vera P Ostojic Jelena V Pekic Sandra R Kozic Dusko B Guerrero Kether Schiffmann Raphael Bernard Genevieve |
| Info | BMC NEUROLOGY, (2015), vol. 15 br. , str. - |
| Projekat | Ministry of Science of Republic of Serbia [175033]; Ministry of Science of the Republic of Serbia [175022]; Provincial Secretariat of Science and Technological Development of Province of Vojvodina, Serbia-Scientific Project [114-451-2255/2011]; Fonds de R |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science |
| Naslov | 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations (Article) |
| Autori | Potic Ana D Brais B Choquet K Schiffmann Raphael Bernard G |
| Info | ARCHIVES OF NEUROLOGY, (2012), vol. 69 br. 7, str. 920-923 |
| Projekat | Fonds de Recherche en Sante du Quebec; Reseau de Medecine Genetique Appliquee; La Fondation sur les Leucodystrophies; European Leukodystrophy Association |
| Ispravka | ISI/Web of Science Članak Elečas Rang časopisa Citati: ISI/Web of Science Scopus |
