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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