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Journal Articles

in Genetic Disorders
 1-20 of 188 Articles
Special Communication | 
Bruce R. Korf, MD, PhD; Heidi L. Rehm, PhD
JAMA. 2013;309(14):1511-1521. doi:10.1001/jama.2013.3239.
INCLUDES: CME

Viewpoint | 
Reed V. Tuckson, MD; Lee Newcomer, MD, MHA; Jeanne M. De Sa, MPP
JAMA. 2013;309(14):1469-1470. doi:10.1001/jama.2013.1468.

Health Agencies Update | 
Bridget M. Kuehn, MSJ
JAMA. 2013;309(12):1220. doi:10.1001/jama.2013.2714.

Medical News and Perspectives | 
Bridget M. Kuehn, MSJ
JAMA. 2013;309(12):1215-1217. doi:10.1001/jama.2013.2087.

Lab Reports | 
Tracy Hampton, PhD
JAMA. 2013;309(5):431. doi:10.1001/jama.2013.268.

Lab Reports | 
Tracy Hampton, PhD
JAMA. 2013;309(1):20. doi:10.1001/jama.2012.173444.

JAMA Patient Page |  FREE
Ann R. Punnoose, MD; Cassio Lynm, MA; Robert M. Golub, MD
JAMA. 2013;309(1):98. doi:10.1001/jama.2012.6226.
INCLUDES: , Supplemental Content

JAMA Patient Page |  FREE
Ryszard M. Pluta, MD, PhD; Robert H. Shmerling, MD; Alison E. Burke, MA; et al.
JAMA. 2012;308(20):2161. doi:10.1001/jama.2012.4095.
INCLUDES: , Supplemental Content

Clinical Crossroads | 
Robert H. Shmerling, MD, Discussant
JAMA. 2012;308(20):2133-2141. doi:10.1001/jama.2012.65028.
INCLUDES: CME , Supplemental Content

Medical News and Perspectives | 
Bridget M. Kuehn, MSJ
JAMA. 2012;308(19):1961-1962. doi:10.1001/jama.2012.14629.

Editorial | 
Uri Ladabaum, MD, MS; James M. Ford, MD
JAMA. 2012;308(15):1581-1583. doi:10.1001/jama.2012.14171.

Original Contribution |  FREE
Leticia Moreira, MD; Francesc Balaguer, MD, PhD; Noralane Lindor, MD; et al.
JAMA. 2012;308(15):1555-1565. doi:10.1001/jama.2012.13088.
INCLUDES: , Supplemental Content

JAMA Clinical Challenge |  FREE
Javier Munoz, MD; Yue Guo, MD
JAMA. 2012;308(14):1476-1477. doi:10.1001/jama.2012.12909.

Editorial | 
Marilyn J. Manco-Johnson, MD
JAMA. 2012;308(14):1480-1481. doi:10.1001/jama.2012.13303.

Original Contribution |  FREE
Carolyn R. Broderick, MBBS; Robert D. Herbert, PhD; Jane Latimer, PhD; et al.
JAMA. 2012;308(14):1452-1459. doi:10.1001/jama.2012.12727.
INCLUDES: , Supplemental Content

JAMA Clinical Challenge |  FREE
Lawrence Wong, MD; Shoji Yano, MD, PhD
JAMA. 2012;308(6):617-618. doi:10.1001/jama.2012.8136.

Lab Reports | 
Tracy Hampton, PhD
JAMA. 2012;308(5):444. doi:10.1001/jama.2012.9444.

Research Letters |  FREE
Kyriakie Sarafoglou, MD; Katie Banks, BS; Jennifer Kyllo, MD; et al.
JAMA. 2012;307(22):2371-2374. doi:10.1001/jama.2012.5281.

Editorial | 
Elliott C. Dasenbrook, MD, MHS; Michael W. Konstan, MD
JAMA. 2012;307(21):2316-2317. doi:10.1001/jama.2012.5853.

Lab Reports | 
Tracy Hampton, PhD
JAMA. 2012;307(21):2247. doi:10.1001/jama.2012.5440.

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From The JAMA Network
JAMA Ophthalmology
Clinical Sciences  | 
Phenotypic Conservation in Patients With X-Linked Retinitis Pigmentosa Caused by RPGR Mutations
Sarwar Zahid, MD, MS; Naheed Khan, PhD; Kari Branham, MS; et al.
JAMA Neurology
Clinical Implications of Basic Neuroscience Research  | 
TRIM Proteins in Therapeutic Membrane Repair of Muscular Dystrophy
Jenna Alloush; Noah Weisleder, PhD
JAMA Ophthalmology
Clinical Trials  | 
Treatment With 9- cis β-Carotene–Rich Powder in Patients With Retinitis Pigmentosa:  A Randomized Crossover Trial
Ygal Rotenstreich, MD; Michael Belkin, MD; Siegal Sadetzki, MD; et al.
JAMA Internal Medicine
Viewpoint  | 
Two New Drugs for Homozygous Familial Hypercholesterolemia:  Managing Benefits and Risks in a Rare Disorder
Robert J. Smith, MD; William R. Hiatt, MD