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Journal Articles

in Genetic Disorders
 61-80 of 1547 Articles
JAMA Ophthalmology | 
Original Investigation | 
Rosa Riveiro-Álvarez, PhD; Yajing (Angela) Xie, MA; Miguel-Ángel López-Martínez, MD; et al.
JAMA Ophthalmol. 2015;133(2):133-139. doi:10.1001/jamaophthalmol.2014.4266.

JAMA Dermatology | 
Original Investigation | 
Molly S. Moye, MD; Sallyann M. C. King, MD, MSc; Zakiya P. Rice, MD; et al.
JAMA Dermatol. 2015;151(2):137-143. doi:10.1001/jamadermatol.2014.2229.
Includes: Supplemental Content

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 | 
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 | 
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 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 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 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 | 
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 Neurology | 
Original Investigation | 
Annalese G. Neuenschwander; Khanh K. Thai, MS; Karla P. Figueroa, MS; et al.
JAMA Neurol. 2014;71(12):1529-1534. doi:10.1001/jamaneurol.2014.2082.
Includes: Supplemental Content

JAMA Neurology | 
Original Investigation | 
David S. Russell, MD, PhD; Olivier Barret, PhD; Danna L. Jennings, MD; et al.
JAMA Neurol. 2014;71(12):1520-1528. doi:10.1001/jamaneurol.2014.1954.
Includes: Supplemental Content

JAMA Neurology | 
Review | 
Rivka Inzelberg, MD; Sharon Hassin-Baer, MD; Joseph Jankovic, MD
JAMA Neurol. 2014;71(12):1567-1572. doi:10.1001/jamaneurol.2014.1364.

JAMA Dermatology | 
Notable Notes | 
Rina M. Allawh, BS; Scott A. Norton, MD
JAMA Dermatol. 2014;150(12):1335. doi:10.1001/jamadermatol.2014.2056.

JAMA Dermatology | 
JAMA Dermatology Patient Page |  FREE
Jonathan I. Silverberg, MD, PhD, MPH
JAMA Dermatol. 2014;150(12):1380. doi:10.1001/jamadermatol.2014.2757.

JAMA | 
Original Investigation |  FREE
Rakhi P. Naik, MD, MHS; Vimal K. Derebail, MD; Morgan E. Grams, MD; et al.
JAMA. 2014;312(20):2115-2125. doi:10.1001/jama.2014.15063.
Includes: CME, Supplemental Content

JAMA | 
Research Letter |  FREE
Giulio Conte, MD; Carlo de Asmundis, MD, PhD; Giuseppe Ciconte, MD; et al.
JAMA. 2014;312(19):2039-2041. doi:10.1001/jama.2014.13752.

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From The JAMA Network
JAMA Ophthalmology
Observation  | 
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness
Adam P. DeLuca, PhD; Matthew C. Weed, MD; Christine M. Haas; et al.
JAMA Neurology
Original Investigation  | 
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia:  A Broadened Spectrum of SCA34
Kokoro Ozaki, MD; Hiroshi Doi, MD, PhD; Jun Mitsui, MD, PhD; et al.
JAMA Dermatology
Observation  | 
Practical Events in the Management of a Collodion Baby
Michelle A. Nguyen, BS; Ari Gelman, BS; Scott A. Norton, MD, MPH
JAMA Neurology
Viewpoint  | 
Advances in Muscular Dystrophies
Peter B. Kang, MD; Robert C. Griggs, MD