Amsterdam Neuroscience
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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
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Correspondence on “Expanded phenotype of AARS1-related white matter disease” by Helman et al
Leidi, A., Previtali, R., Parazzini, C., Raviglione, F., Carelli, S., Mendes, M. I., Salomons, G. S., Iascone, M. & Tonduti, D., 1 May 2022, In: Genetics in medicine. 24, 5, p. 1152-1153 2 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
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A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Ravel, J-M., Dreumont, N., Mosca, P., Smith, D. E. C., Mendes, M. I., Wiedemann, A., Coelho, D., Schmitt, E., Rivière, J-B., Tran Mau-Them, F., Thevenon, J., Kuentz, P., Polivka, M., Fuchs, S. A., Kok, G., Thauvin-Robinet, C., Guéant, J-L., Salomons, G. S., Faivre, L. & Feillet, F., 1 Dec 2021, In: Human mutation. 42, 12, p. 1576-1583 8 p.Research output: Contribution to journal › Article › Academic › peer-review
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