0

Journal Articles

in Genetic Disorders
 1-20 of 1393 Articles
JAMA | 
Viewpoint | 
Catherine Taylor, MB, BChir; Patricia Kavanagh, MD; Barry Zuckerman, MD
JAMA. 2014;311(15):1495-1496. doi:10.1001/jama.2014.2157.

JAMA Pediatrics | 
Editorial |  ONLINE FIRST
Beth A. Tarini, MD, MS
JAMA Pediatr. 2014;():1-2. doi:10.1001/jamapediatrics.2014.246.

JAMA Pediatrics | 
Original Investigation |  ONLINE FIRST
Sebastian Gidlöf, MD, PhD; Anna Wedell, MD, PhD; Claes Guthenberg, PhD; et al.
JAMA Pediatr. 2014;():1-8. doi:10.1001/jamapediatrics.2013.5321.

JAMA Dermatology | 
Original Investigation |  FREE ONLINE FIRST
Jacob S. Margolis; Katrina Abuabara, MD; Warren Bilker, PhD; et al.
JAMA Dermatol. 2014;():. doi:10.1001/jamadermatol.2013.10271.

JAMA Ophthalmology | 
Original Investigation | 
Rajeshwari D. Koilkonda, PhD; Hong Yu, PhD; Tsung-Han Chou, PhD; et al.
JAMA Ophthalmol. 2014;132(4):409-420. doi:10.1001/jamaophthalmol.2013.7630.
Includes: Supplemental Content

JAMA Ophthalmology | 
Viewpoint | 
Angela Y. Zhu, BS; Charles G. Eberhart, MD, PhD; Albert S. Jun, MD, PhD
JAMA Ophthalmol. 2014;132(4):377-378. doi:10.1001/jamaophthalmol.2013.7993.

JAMA Ophthalmology | 
Original Investigation | 
Byron L. Lam, MD; William J. Feuer, MS; Joyce C. Schiffman, MS; et al.
JAMA Ophthalmol. 2014;132(4):428-436. doi:10.1001/jamaophthalmol.2013.7971.
Includes: Supplemental Content

JAMA Pediatrics | 
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.

JAMA Neurology | 
Original Investigation | 
Maxime Cadieux-Dion, BSc; Maude Turcotte-Gauthier, MSc; Anne Noreau, MSc; et al.
JAMA Neurol. 2014;71(4):470-475. doi:10.1001/jamaneurol.2013.6337.
Includes: Supplemental Content

JAMA | 
Health Agencies Update | 
Bridget M. Kuehn, MSJ
JAMA. 2014;311(12):1192. doi:10.1001/jama.2014.3083.

JAMA Neurology | 
Original Investigation |  ONLINE FIRST
Laura Serra, PhD; Gabriella Silvestri, MD; Antonio Petrucci, MD; et al.
JAMA Neurol. 2014;():. doi:10.1001/jamaneurol.2014.130.
Includes: Supplemental Content

JAMA Dermatology | 
Case Report/Case Series |  ONLINE FIRST
Mina S. Ally, BSc, MBBS; Jean Y. Tang, MD, PhD; Timmy Joseph, MD; et al.
JAMA Dermatol. 2014;():. doi:10.1001/jamadermatol.2013.7444.

JAMA | 
Editorial | 
William Gregory Feero, MD, PhD
JAMA. 2014;311(10):1017-1019. doi:10.1001/jama.2014.1718.

JAMA | 
Original Investigation | 
Frederick E. Dewey, MD; Megan E. Grove, MS; Cuiping Pan, PhD; et al.
JAMA. 2014;311(10):1035-1045. doi:10.1001/jama.2014.1717.
Includes: Supplemental Content

JAMA Ophthalmology | 
JAMA Ophthalmology Clinical Challenge | 
Vincent D. Venincasa, BS; Christina Weng, MD, MBA; Audina M. Berrocal, MD
JAMA Ophthalmol. 2014;132(3):351-352. doi:10.1001/jamaophthalmol.2013.8157.

JAMA Ophthalmology | 
Ophthalmic Images | 
Ian R. Gorovoy, MD; Jacque L. Duncan, MD
JAMA Ophthalmol. 2014;132(3):325. doi:10.1001/jamaophthalmol.2013.4329.

JAMA Ophthalmology | 
Research Letter | 
Sten Kjellström, MD, PhD; Fredrik Ghosh, MD, PhD; Camasamudram Vijayasarathy, PhD; et al.
JAMA Ophthalmol. 2014;132(3):353-354. doi:10.1001/jamaophthalmol.2013.6306.

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

JAMA Dermatology | 
Original Investigation | 
David J. Margolis, MD, PhD; Brian Kim, MD; Andrea J. Apter, MD, MSc; et al.
JAMA Dermatol. 2014;150(3):254-259. doi:10.1001/jamadermatol.2013.7954.
Includes: CME

JAMA Neurology | 
Clinical Implications of Basic Neuroscience Research | 
Flora Tassone, PhD
JAMA Neurol. 2014;71(3):355-359. doi:10.1001/jamaneurol.2013.4808.

Sign In

Register for a FREE personal account

and access these and other features:

Register Now

Want to Subscribe?

Learn More about subscription options.

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

From The JAMA Network
JAMA
Viewpoint  | 
Sickle Cell Trait—Neglected Opportunities in the Era of Genomic Medicine
Catherine Taylor, MB, BChir; Patricia Kavanagh, MD; Barry Zuckerman, MD
JAMA Pediatrics
Editorial  | 
The Value of Time in Assessing the Effectiveness of Newborn Screening for Congenital Adrenal Hyperplasia
Beth A. Tarini, MD, MS
JAMA Pediatrics
Original Investigation  | 
Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden:  A 26-Year Longitudinal Prospective Population-Based Study
Sebastian Gidlöf, MD, PhD; Anna Wedell, MD, PhD; Claes Guthenberg, PhD; et al.
JAMA Dermatology
Original Investigation  | 
Persistence of Mild to Moderate Atopic Dermatitis
Jacob S. Margolis; Katrina Abuabara, MD; Warren Bilker, PhD; et al.