0

Journal Articles

in Genetic Disorders
 61-80 of 1271 Articles
JAMA Ophthalmology | 
Clinical Sciences | 
Paul S. Tlucek, MD; James C. Folk, MD; Jason A. Orien, MD; et al.
Arch Ophthalmol. 2012;130(11):1395-1401. doi:10.1001/archophthalmol.2012.1971.

JAMA Neurology | 
Correspondence | 
Sachin S. Kapur, MD, MS; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(11):1524-1525. doi:10.1001/archneurol.2012.2771.

JAMA Ophthalmology | 
Research Letters | 
Susan M. Downes, MBChB, MD, FRCOphth; Emily Packham, DipRCPath; Treena Cranston, BSc, DipRCPath; et al.
Arch Ophthalmol. 2012;130(11):1486-1490. doi:10.1001/archophthalmol.2012.1697.

JAMA Ophthalmology | 
Research Letters | 
Stephanie Halford, PhD; Richard Holt, DPhil; Andrea H. Németh, BSc, MBBS, DPhil, FRCP; et al.
Arch Ophthalmol. 2012;130(11):1490-1492. doi:10.1001/archophthalmol.2012.708.

JAMA Ophthalmology | 
Ophthalmic Molecular Genetics | 
Alejandro Estrada-Cuzcano, BSc; Robert K. Koenekoop, MD, PhD; Audrey Senechal, PhD; et al.
Arch Ophthalmol. 2012;130(11):1425-1432. doi:10.1001/archophthalmol.2012.2434.

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

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

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

JAMA | 
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 Dermatology | 
Notable Notes | 
Barry Ladizinski, MD; Andres E. Cruz-Inigo, MD; Aisha Sethi, MD
Arch Dermatol. 2012;148(10):1151. doi:10.1001/archdermatol.2012.2515.

JAMA Ophthalmology | 
Research Letters | 
Eleonora M. Lad, MD, PhD; Jason R. Karamchandani, MD; Deborah M. Alcorn, MD; et al.
Arch Ophthalmol. 2012;130(10):1335-1337. doi:10.1001/archophthalmol.2012.2250.

JAMA Ophthalmology | 
Research Letters | 
Dennis P. Han, MD; Melody Chin, BS; Kenneth B. Simons, MD; et al.
Arch Ophthalmol. 2012;130(10):1337-1339. doi:10.1001/archophthalmol.2012.2305.

JAMA Dermatology | 
Observation | 
Emmanuelle Bourrat, MD; Claudine Blanchet-Bardon, MD; Celine Derbois, MD; et al.
Arch Dermatol. 2012;148(10):1191-1195. doi:10.1001/archdermatol.2012.1947.

JAMA Ophthalmology | 
Ophthalmic Molecular Genetics | 
Alex S. Huang, MD, PhD; Leo A. Kim, MD, PhD; Amani A. Fawzi, MD
Arch Ophthalmol. 2012;130(9):1184-1189. doi:10.1001/archophthalmol.2012.1117.

JAMA Neurology | 
Observation | 
Sachin S. Kapur, MD; Jennifer G. Goldman, MD, MS
Arch Neurol. 2012;69(9):1200-1203. doi:10.1001/archneurol.2011.3044.

JAMA Neurology | 
Observation | 
Daniel B. Ash, BS; Dimitra Papadimitriou, MD; Arthur P. Hays, MD; et al.
Arch Neurol. 2012;69(9):1190-1192. doi:10.1001/archneurol.2011.2600.

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

JAMA Ophthalmology | 
Ophthalmic Images | 
Benoit Guignier, MD; Ines Samet, MD; Tristan Bourcier, MD, PhD
Arch Ophthalmol. 2012;130(8):1018. doi:10.1001/archophthalmol.2012.32.

JAMA Dermatology | 
Evidence-Based Dermatology: Research Commentary | 
Meghan Dickman, MD; Annelise L. Dawson, MD; Robert P. Dellavalle, MD, PhD, MSPH
Arch Dermatol. 2012;148(8):936-938. doi:10.1001/archdermatol.2012.1410.

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 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