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Journal Articles

in Genetic Disorders
 1-20 of 75 Articles
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 | 
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.

Article |  FREE
Gary L. McPhail, MD; Jeanne Weiland, RN; James D. Acton, MD; et al.
Arch Pediatr Adolesc Med. 2010;164(10):957-960. doi:10.1001/archpediatrics.2010.178.

Special Feature |  FREE
Arch Pediatr Adolesc Med. 2010;164(9):876. doi:10.1001/archpediatrics.2010.150-b.

Special Feature |  FREE
Arch Pediatr Adolesc Med. 2010;164(5):490. doi:10.1001/archpediatrics.2010.53-b.

The Pediatric Forum | 
Michael D. Warren, MD, MPH; Patrick G. Arbogast, PhD; Judy A. Dudley, BS; et al.
Arch Pediatr Adolesc Med. 2010;164(3):298-299. doi:10.1001/archpediatrics.2009.286.

Article |  FREE
Ankie Lebon, MSc; Joost A. M. Labout, MD; Henri A. Verbrugh, MD, PhD; et al.
Arch Pediatr Adolesc Med. 2009;163(8):745-749. doi:10.1001/archpediatrics.2009.117.

Special Feature |  FREE
Arch Pediatr Adolesc Med. 2009;163(8):766. doi:10.1001/archpediatrics.2009.126-b.

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From The JAMA Network
JAMA Dermatology
Original Investigation  | 
Patient-Centered, Direct-Access Online Care for Management of Atopic Dermatitis:  A Randomized Clinical Trial
April W. Armstrong, MD, MPH; Mary Ann Johnson, MD; Steven Lin, MD; et al.
JAMA
Original Investigation  | 
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee, PhD; Joshua L. Deignan, PhD; Naghmeh Dorrani, MS, CGC; et al.
JAMA Neurology
Original Investigation  | 
The Phosphodiesterase 10 Positron Emission Tomography Tracer, [18F]MNI-659, as a Novel Biomarker for Early Huntington Disease
David S. Russell, MD, PhD; Olivier Barret, PhD; Danna L. Jennings, MD; et al.
JAMA Ophthalmology
Research Letter  | 
Massive Retinal Gliosis in Neurofibromatosis Type 1
Frederick A. Jakobiec, MD, DSc; Alia Rashid, MBChB; Kyle Lewis, MD