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Journal Articles

in Genetic Disorders
 1-20 of 81 Articles
Original Investigation |  ONLINE FIRST
Sarah L. Reeves, PhD; Brian Madden, MS; Gary L. Freed, MD; et al.
JAMA Pediatr. Published online April 11, 2016. doi:10.1001/jamapediatrics.2015.4859

Original Investigation |  ONLINE FIRST
Jeffrey R. Botkin, MD, MPH; Erin Rothwell, PhD; Rebecca A. Anderson, RN, PhD; et al.
JAMA Pediatr. Published online April 04, 2016. doi:10.1001/jamapediatrics.2015.4850
Includes: Supplemental Content

JAMA Pediatrics Clinical Challenge | 
Anisha Chandra Schwarz, MD, MS; Catherine Amlie-Lefond, MD
JAMA Pediatr. 2016;170(1):85-86. doi:10.1001/jamapediatrics.2015.1677.

Review | 
Hilary J. Vernon, MD, PhD
JAMA Pediatr. 2015;169(8):778-782. doi:10.1001/jamapediatrics.2015.0754.

Editorial |  ONLINE ONLY
Marianna M. Sockrider, MD, DrPH
JAMA Pediatr. 2015;169(5):e150644. doi:10.1001/jamapediatrics.2015.0644.

Original Investigation |  FREE ONLINE ONLY
Scott W. Powers, PhD, ABPP; Lori J. Stark, PhD; Leigh A. Chamberlin, RD, MED; et al.
JAMA Pediatr. 2015;169(5):e150636. doi:10.1001/jamapediatrics.2015.0636.
Includes: Supplemental Content

JAMA Pediatrics Clinical Challenge | 
Ernesto M. Gonzalez, MD, MBA; Cynthia Carver DeKlotz, MD; Lawrence F. Eichenfield, MD
JAMA Pediatr. 2014;168(9):859-860. doi:10.1001/jamapediatrics.2014.74.

Editorial | 
Beth A. Tarini, MD, MS
JAMA Pediatr. 2014;168(6):515-516. doi:10.1001/jamapediatrics.2014.246.

Original Investigation |  FREE
Sebastian Gidlöf, MD, PhD; Anna Wedell, MD, PhD; Claes Guthenberg, PhD; et al.
JAMA Pediatr. 2014;168(6):567-574. doi:10.1001/jamapediatrics.2013.5321.

Review | 
Charlotte A. Hobbs, MD, PhD; Shimul Chowdhury, PhD; Mario A. Cleves, PhD; et al.
JAMA Pediatr. 2014;168(4):371-377. doi:10.1001/jamapediatrics.2013.4858.

Review | 
Stefano Guandalini, MD; Asaad Assiri, MD
JAMA Pediatr. 2014;168(3):272-278. doi:10.1001/jamapediatrics.2013.3858.

Research Letters |  FREE
Antti Saari, MD; Ulla Sankilampi, MD, PhD; Leo Dunkel, MD, PhD
JAMA Pediatr. 2013;167(2):194-195. doi:10.1001/jamapediatrics.2013.436.

Article |  FREE
Lucia Spicuzza, MD, PhD; Concetta Sciuto, MD; Salvatore Leonardi, MD; et al.
Arch Pediatr Adolesc Med. 2012;166(12):1165-1169. doi:10.1001/archpediatrics.2012.1177.

Special Feature |  FREE
Arch Pediatr Adolesc Med. 2012;166(7):658. doi:10.1001/archpediatrics.2012.189b.

Article |  FREE
Bénédicte Coulm; Joel Coste, MD, PhD; Véronique Tardy, MD; et al.
Arch Pediatr Adolesc Med. 2012;166(2):113-120. doi:10.1001/archpediatrics.2011.774.
Includes: Supplemental Content

Editorial | 
Michael G. Yost, PhD; James Bradford Burch, PhD
Arch Pediatr Adolesc Med. 2011;165(10):959-961. doi:10.1001/archpediatrics.2011.169.

Editorial | 
Lisa Saiman, MD, MPH; Mitchell B. Cohen, MD
Arch Pediatr Adolesc Med. 2011;165(9):867-868. doi:10.1001/archpediatrics.2011.133.

Article |  FREE
Miriam M. Treggiari, MD, PhD, MPH; George Retsch-Bogart, MD; Nicole Mayer-Hamblett, PhD; et al.
Arch Pediatr Adolesc Med. 2011;165(9):847-856. doi:10.1001/archpediatrics.2011.136.
Includes: CME, Supplemental Content

Special Feature |  FREE
Arch Pediatr Adolesc Med. 2011;165(4):368. doi:10.1001/archpediatrics.2011.23-b.

Special Feature |  FREE
Arch Pediatr Adolesc Med. 2010;164(12):1166. doi:10.1001/archpediatrics.2010.228-b.

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JAMA Ophthalmology
Brief Report  | 
Optical Coherence Tomography Angiography in Choroideremia Correlating Choriocapillaris Loss With Overlying Degeneration
Nieraj Jain, MD; Yali Jia, PhD; Simon S. Gao, PhD; et al.
JAMA Ophthalmology
Observation  | 
Complication of Autologous Stem Cell Transplantation in Retinitis Pigmentosa
Katherine Boudreault, MD, FRCS; Sally Justus, BA; Winston Lee, MSc; et al.
JAMA Dermatology
JAMA Dermatology Clinicopathological Challenge  | 
A Girl With Marfanoid Habitus and Distinctive Orolabial Lesions
Nicole Knöpfel, MD; Ana Martín-Santiago, MD; Elsa Puerto-Carranza, MD
JAMA
News From the Food and Drug Administration  | 
A First in Hemophilia B Therapy
Rebecca Voelker, MSJ