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Select item 66989361.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Arjan F. Theil, Elena Botta, Anja Raams, Desiree E.C. Smith, Marisa I. Mendes, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione, Roberta Carriero, Giordano Liberi, Luca Zardoni, Sigrid M.A. Swagemakers, Gajja S. Salomons, Alain Sarasin, Alan Lehmann, Peter J. van der Spek, Tomoo Ogi, Jan H.J. Hoeijmakers, Wim Vermeulen, Donata Orioli

Am J Hum Genet. 2019 Aug 1; 105(2): 434–440. Published online 2019 Aug 1. doi: 10.1016/j.ajhg.2019.06.017

PMCID:: PMC6698936

Abstract Article PDF–976K

Select item 58861102.

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

Arjan F Theil, Imke K Mandemaker, Emile van den Akker, Sigrid M A Swagemakers, Anja Raams, Tatjana Wüst, Jurgen A Marteijn, Jacques C Giltay, Richard M Colombijn, Ute Moog, Urania Kotzaeridou, Mehrnaz Ghazvini, Marieke von Lindern, Jan H J Hoeijmakers, Nicolaas G J Jaspers, Peter J van der Spek, Wim Vermeulen

Hum Mol Genet. 2017 Dec 1; 26(23): 4689–4698. Published online 2017 Sep 11. doi: 10.1093/hmg/ddx351