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2021
Botta, Elena, Theil, Arjan F., Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E. C., Mendes, Marisa, I, Swagemakers, Sigrid M. A., Van der Spek, Peter J., Salomons, Gajja S., Hoeijmakers, Jan H. J., Yesodharan, Dhanya, Nampoothiri, Sheela ORCID: 0000-0002-9575-0722, Ogi, Tomoo, Lehmann, Alan R., Orioli, Donata and Vermeulen, Wim
ORCID: 0000-0003-3616-734X
(2021).
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Hum. Mol. Genet., 30 (18).
S. 1711 - 1721.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2083
2019
Thei, Arjan F., Botta, Elena, Raams, Anja, Smith, Desiree E. C., Mendes, Marisa, I, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia ORCID: 0000-0002-3924-4606, Carriero, Roberta, Liberi, Giordano, Zardoni, Luca, Swagemakers, Sigrid M. A., Salomons, Gajja S., Sarasin, Alain, Lehmann, Alan, van der Spek, Peter J., Ogi, Tomoo, Hoeijmakers, Jan H. J., Vermeulen, Wim
ORCID: 0000-0003-3616-734X and orioli, Donata
(2019).
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Am. J. Hum. Genet., 105 (2).
S. 434 - 441.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2018
Mandemaker, Imke K., Geijer, Marit E., Kik, Iris, Bezstarosti, Karel, Rijkers, Erikjan, Raams, Anja, Janssens, Roel C., Lans, Hannes ORCID: 0000-0003-4417-5358, Hoeijmakers, Jan H. J., Demmers, Jeroen A. A., Vermeulen, Wim
ORCID: 0000-0003-3616-734X and Marteijn, Jurgen A.
(2018).
DNA damage-induced replication stress results in PA200-proteasome-mediated degradation of acetylated histones.
EMBO Rep., 19 (10).
HOBOKEN:
WILEY.
ISSN 1469-3178