Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice von Asch, Sarah, Swink, Shane M., Vivar, Karina L., Pickford, Jean, Breuning, Lisa, Wassel, Christine, Hand, Jennifer L., Milstone, Leonard, Castelo‐Soccio, Leslie

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 von Aten, Emmelien, Brasz, Lisa C, Bornholdt, Dorothea, Hooijkaas, Ingeborg B, Porteous, Mary E, Sybert, Virginia P, Vermeer, Maarten H, Vossen, Rolf H.A.M, van der Wielen, Michiel J.R, Bakker, Egbert, Breuning, Martijn H, Grzeschik, Karl-Heinz, Oosterwijk, Jan C, den Dunnen, Johan T

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Connecting one’s own illness story to the illness experiences of others on a website—An evaluation study using the think aloud method von Breuning, Martina, Schäfer-Fauth, Lisa, Lucius-Hoene, Gabriele, Holmberg, Christine

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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma von Pierrache, Laurence H.M., MD, MSc, Kimchi, Adva, MSc, Ratnapriya, Rinki, PhD, Roberts, Lisa, MSc, Astuti, Galuh D.N., MD, Obolensky, Alexey, MD, PhD, Beryozkin, Avigail, MSc, Tjon-Fo-Sang, Martha J.H., MD, Schuil, Jose, MD, Klaver, Caroline C.W., MD, PhD, Bongers, Ernie M.H.F., MD, PhD, Haer-Wigman, Lonneke, PhD, Schalij, Nicoline, MD, PhD, Breuning, Martijn H., MD, PhD, Fischer, Gratia M., MD, Banin, Eyal, MD, PhD, Ramesar, Raj S., PhD, MSc, Swaroop, Anand, PhD, van den Born, L. Ingeborgh, MD, PhD, Sharon, Dror, PhD, Cremers, Frans P.M., PhD

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