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Author/Creator Shaw, Natalie D.

1. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. (29th March 2022)

Authors:
Mohassel, Payam; Chang, Ning; Inoue, Kaoru; Delaney, Angela; Hu, Ying; Donkervoort, Sandra; Saade, Dimah; Billioux, B. Jeanne; Meader, Brooke; Volochayev, Rita; Konersman, Chamindra G.; Kaindl, Angela M.; Cho, Chie-Hee; Russell, Bianca; Rodriguez, Adrian; Foster, K. Wade; Foley, A. Reghan; Moore,...
Journal:
Neurology
Issue:
Volume 98:Number 13(2022)
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Record Type:
Journal Article
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2. FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. (7th August 2018)

Authors:
Mul, Karlien; Lemmers, Richard J.L.F.; Kriek, Marjolein; van der Vliet, Patrick J.; van den Boogaard, Marlinde L.; Badrising, Umesh A.; Graham, John M.; Lin, Angela E.; Brand, Harrison; Moore, Steven A.; Johnson, Katherine; Evangelista, Teresinha; Töpf, Ana; Straub, Volker; Kapetanovic García, So...
Journal:
Neurology
Issue:
Volume 91:Number 6(2018)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗