-
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype
Aelvoet, Y., Verloo, P., Vanlander, A., Vande Velde, S., van Biervliet, S., de Bruyne, P., Hoste, L., Dheedene, A., Pottie, L., Hoorens, A., Mendes, M. & de Bruyne, R., 1 May 2025, In: JIMD reports. 66, 3, e70013.Research output: Contribution to journal › Article* › Academic › peer-review
-
Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
del Greco, C., Kuo, M. E., Smith, D. E. C., Mendes, M. I., Salamons, G. S., Nemcovic, M., Kodrikova, R., Sestak, S., Stancheva, M. & Antonellis, A., 1 Feb 2025, In: Molecular genetics and genomic medicine. 13, 2, e70078.Research output: Contribution to journal › Article* › Academic › peer-review
-
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly
Bögershausen, N., Krawczyk, H. E., Jamra, R. A., Lin, S.-J., Yigit, G. K., Hüning, I., Polo, A. M., Vona, B., Huang, K., Schmidt, J., Altmüller, J., Luppe, J., Platzer, K., Dörgeloh, B. B., Busche, A., Biskup, S., Mendes, M. I., Smith, D. E. C., Salomons, G. S. & Zibat, A. & 10 others, , Oct 2022, In: Human mutation. 43, 10, p. 1454-1471 18 p.Research output: Contribution to journal › Article* › Academic › peer-review
- All publications
