Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia

Autor: Young, Marielle P., Sawyer, Briana L., Hartnett, M. Elizabeth

Publikováno v: In Journal of AAPOS April 2014 18(2):205-207

Maternal mosaicism in long QT syndrome due to a pathogenic variant in KCNH2 .

Autor: Sawyer BL; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, Utah., Tristani-Firouzi M; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, Utah., Wells LE; Department of Precision Genomics, Intermountain Primary Children's Hospital, Salt Lake City, Utah., Vatta M; Invitae Corporation, San Francisco, California.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Etheridge SP; Division of Pediatric Cardiology, Department of Pediatrics, University of Utah, Salt Lake City, Utah.

Publikováno v: HeartRhythm case reports [HeartRhythm Case Rep] 2020 Nov 16; Vol. 7 (2), pp. 74-78. Date of Electronic Publication: 2020 Nov 16 (Print Publication: 2021).