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Journal Articles

in Genetic Disorders
 41-38 of 38 Articles

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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