eNauka - pregled
Pregled prema Autor Schiffmann, Raphael
Prikaz rezultata 1 do 3 od 3
| Godina | Naslov | Autor(i) | Tip rezultata | Mp-kat. |
|---|---|---|---|---|
| 2012 | 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations | Potic, Ana D; Brais, B; Choquet, K; Schiffmann, Raphael; Bernard, G | Article | 21a+M21a+ |
| 2023 | 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 | Potic, Ana D; Perrier, Stefanie; Radovic, Tijana; Gavrilovic, Svetlana; Ostojic, Jelena V   ; Tran, Luan T; Thiffault, Isabelle; Pastinen, Tomi; Schiffmann, Raphael; Bernard, Genevieve | Article | 21M21 |
| 2015 | Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy | Potić, Ana; Popović, Vera ; Ostojić, Jelena ; Pekić, Sandra ; Kozić, Duško ; Guerrero, Kether; Schiffmann, Raphael; Bernard, Geneviève | Article | 22M22 |