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Author/Creator Simone, Laurie

1. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Issue 12 (14th May 2020)

Authors:
Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpe...
Journal:
Journal of medical genetics
Issue:
Volume 57:Issue 12(2020)
Page Start:
808
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Expanding the genetic landscape of oral‐facial‐digital syndrome with two novel genes. Issue 8 (15th June 2021)

Authors:
Strong, Alanna; Simone, Laurie; Krentz, Anthony; Vaccaro, Courtney; Watson, Deborah; Ron, Hayley; Kalish, Jennifer M.; Pedro, Helio F.; Zackai, Elaine H.; Hakonarson, Hakon
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2409
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗