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Journal Articles

in Genetic Disorders
 1-20 of 1502 Articles
JAMA Dermatology | 
Observation |  ONLINE FIRST
Julia M. Kwan, MD
JAMA Dermatol. Published online January 28, 2015. doi:10.1001/jamadermatol.2014.5068

JAMA Ophthalmology | 
Ophthalmic Images |  ONLINE ONLY
Scott Ketner, MD; Issac E. Moradi, MD; Pearl S. Rosenbaum, MD
JAMA Ophthalmol. 2015;133(1):e141770. doi:10.1001/jamaophthalmol.2014.1770.

JAMA Ophthalmology | 
Ophthalmic Images |  ONLINE ONLY
Yoshihiro Yonekawa, MD; Luis J. Haddock, MD; Dean Eliott, MD
JAMA Ophthalmol. 2015;133(1):e141812. doi:10.1001/jamaophthalmol.2014.1812.

JAMA Dermatology | 
Research Letter |  ONLINE FIRST
Ashley M. Quiggle, BA; Zane A. Goodwin, BS; Twinkal R. Marfatia, PhD; et al.
JAMA Dermatol. Published online January 07, 2015. doi:10.1001/jamadermatol.2014.4916

JAMA Dermatology | 
Observation |  ONLINE FIRST
Fleur S. van Dijk, MD, PhD; Helen Brittain, MD, PhD; Ragna Boerma, MD; et al.
JAMA Dermatol. Published online January 07, 2015. doi:10.1001/jamadermatol.2014.4900

JAMA Dermatology | 
Original Investigation |  ONLINE FIRST
Aegean Chan, MD; Elena Godoy-Gijon, MD; Almudena Nuno-Gonzalez, MD; et al.
JAMA Dermatol. Published online January 07, 2015. doi:10.1001/jamadermatol.2014.3369
Includes: Supplemental Content

JAMA Dermatology | 
Notable Notes | 
Walter H. C. Burgdorf, MD; Leonard J. Hoenig, MD
JAMA Dermatol. 2015;151(1):14. doi:10.1001/jamadermatol.2014.486.

JAMA Dermatology | 
The Cutting Edge | 
Sabrina Kindem, MD; Carlos Serra-Guillén, MD; Guillermo Sorní, MD; et al.
JAMA Dermatol. 2015;151(1):85-86. doi:10.1001/jamadermatol.2014.2697.

JAMA Dermatology | 
Case Report/Case Series | 
Iris Spoerri, PhD; Michela Brena, MD; Julie De Mesmaeker, PhD; et al.
JAMA Dermatol. 2015;151(1):64-69. doi:10.1001/jamadermatol.2014.2526.
Includes: Supplemental Content

JAMA Dermatology | 
Editorial | 
Keith A. Choate, MD, PhD; Leonard M. Milstone, MD
JAMA Dermatol. 2015;151(1):15-16. doi:10.1001/jamadermatol.2014.2525.

JAMA Ophthalmology | 
Research Letter | 
Frederick A. Jakobiec, MD, DSc; Alia Rashid, MBChB; Kyle Lewis, MD
JAMA Ophthalmol. 2015;133(1):100-102. doi:10.1001/jamaophthalmol.2014.3958.

JAMA Dermatology | 
Observation | 
G. Thomas Brown, MD, PhD; Edward W. Cowen, MD, MHSc; Chyi-chia Richard Lee, MD
JAMA Dermatol. 2015;151(1):105-106. doi:10.1001/jamadermatol.2014.2186.

JAMA Neurology | 
Case Report/Case Series | 
Gráinne S. Gorman, MRCP; Gerald Pfeffer, MD; Helen Griffin, PhD; et al.
JAMA Neurol. 2015;72(1):106-111. doi:10.1001/jamaneurol.2014.1753.
Includes: Supplemental Content

JAMA Surgery | 
Research Letter | 
Jennifer Tseng, MD; Susan L. Orloff, MD
JAMA Surg. 2015;150(1):81-82. doi:10.1001/jamasurg.2014.307.

JAMA Ophthalmology | 
Original Investigation |  ONLINE FIRST
Elia Shevach, BSc; Manir Ali, PhD; Liliana Mizrahi-Meissonnier, MSc; et al.
JAMA Ophthalmol. Published online December 26, 2014. doi:10.1001/jamaophthalmol.2014.5251

JAMA Dermatology | 
Invited Commentary |  ONLINE FIRST
Dawn Davis, MD
JAMA Dermatol. Published online December 23, 2014. doi:10.1001/jamadermatol.2014.3128

JAMA Dermatology | 
Original Investigation |  ONLINE FIRST
Jonathan I. Silverberg, MD, PhD, MPH; Lauren Becker, MD; Mary Kwasny, ScD; et al.
JAMA Dermatol. Published online December 23, 2014. doi:10.1001/jamadermatol.2014.3059
Includes: Supplemental Content

JAMA Neurology | 
Case Report/Case Series |  ONLINE FIRST
Heather Trang, MSc; Sabrina Y. Stanley, BSc; Paul Thorner, MD, PhD; et al.
JAMA Neurol. Published online December 15, 2014. doi:10.1001/jamaneurol.2014.1902

JAMA Ophthalmology | 
Original Investigation |  ONLINE FIRST
Joshua D. Stein, MD, MS; David Childers, MA; Shivani Gupta, MD, MPH; et al.
JAMA Ophthalmol. Published online December 11, 2014. doi:10.1001/jamaophthalmol.2014.5103
Includes: Supplemental Content

JAMA Dermatology | 
Observation |  ONLINE FIRST
Daphné Denis, MD; Nathalie Franck, MD; Fanny Fichel, MD; et al.
JAMA Dermatol. Published online December 10, 2014. doi:10.1001/jamadermatol.2014.4529
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From The JAMA Network
JAMA Dermatology
Observation  | 
Mandibuloacral Dysplasia Type B in an Infant:  A Rare Progeroid Genodermatosis
Julia M. Kwan, MD
JAMA Ophthalmology
Ophthalmic Images  | 
Angioid Streaks in Association With Sickle Thalassemia Trait
Scott Ketner, MD; Issac E. Moradi, MD; Pearl S. Rosenbaum, MD
JAMA Ophthalmology
Ophthalmic Images  | 
A 360° Giant Retinal Tear in Stickler Syndrome
Yoshihiro Yonekawa, MD; Luis J. Haddock, MD; Dean Eliott, MD
JAMA Dermatology
Research Letter  | 
Low Filaggrin Monomer Repeats in African American Pediatric Patients With Moderate to Severe Atopic Dermatitis
Ashley M. Quiggle, BA; Zane A. Goodwin, BS; Twinkal R. Marfatia, PhD; et al.