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Journal Articles

in Genetic Disorders
 81-75 of 75 Articles

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From The JAMA Network
JAMA
Original Investigation  | 
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Hane Lee, PhD; Joshua L. Deignan, PhD; Naghmeh Dorrani, MS, CGC; et al.
JAMA Neurology
Original Investigation  | 
The Phosphodiesterase 10 Positron Emission Tomography Tracer, [18F]MNI-659, as a Novel Biomarker for Early Huntington Disease
David S. Russell, MD, PhD; Olivier Barret, PhD; Danna L. Jennings, MD; et al.
JAMA Ophthalmology
Research Letter  | 
Massive Retinal Gliosis in Neurofibromatosis Type 1
Frederick A. Jakobiec, MD, DSc; Alia Rashid, MBChB; Kyle Lewis, MD
JAMA Dermatology
Observation  | 
Malignant Melanoma Masquerading as an Angiofibroma in a Patient With MEN-1
G. Thomas Brown, MD, PhD; Edward W. Cowen, MD, MHSc; Chyi-chia Richard Lee, MD