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2007
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- Erfelijkheidsonderzoek
- Overig
Richards A, van den Maagdenberg AMJM , Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca M, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KRJ, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PTVM, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RF, Baloh RW, Ferrari MD, Atkinson JP
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Nat Genet. September 2007.
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1998
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- Erfelijkheidsonderzoek
- Overig
Terwindt GM, Haan J, Ophoff RA , Groenen SM, Storimans CW, Lanser JB, Roos RA, Bleeker-Wagemakers EM, Frants RR, Ferrari MD
Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon
Brain . 1998 Feb;121 ( Pt 2):303-16.
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