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Journal Articles

in Genetic Disorders
 41-60 of 1272 Articles
JAMA | 
Lab Reports |  January 02, 2013
Lithium for Down Syndrome
Tracy Hampton, PhD
JAMA. 2013;309(1):20. doi:10.1001/jama.2012.173444.
JAMA | 
JAMA Patient Page |  January 02, 2013 FREE
Severe Combined Immunodeficiency
Ann R. Punnoose, MD; Cassio Lynm, MA; Robert M. Golub, MD
JAMA. 2013;309(1):98. doi:10.1001/jama.2012.6226.
INCLUDES: , Supplemental Content
JAMA Neurology | 
Observation |  January 01, 2013
Intracranial Aneurysm and Recessive Polycystic Kidney Disease:  The Third Reported Case
Viviane Chalhoub, MD; Lise Abi-Rafeh, MD; Kamal Hachem, MD; et al.
JAMA Neurol. 2013;70(1):114-116. doi:10.1001/jamaneurol.2013.584.
JAMA Otolaryngology–Head & Neck Surgery | 
Original Article |  January 01, 2013
Restricting Indications for Sinonasal Computed Tomography in Children With Cystic Fibrosis
Oren Cavel, MD; Marie-Claude Quintal, MD; Jacques-Édouard Marcotte, MD; et al.
JAMA Otolaryngol Head Neck Surg. 2013;139(1):54-58. doi:10.1001/jamaoto.2013.1063.
JAMA Neurology | 
Images in Neurology |  January 01, 2013
Neurologic and Vascular Abnormalities in Klippel-Trenaunay-Weber Syndrome
Dimitri Renard, MD; Chantal Campello, MD; Guillaume Taieb, MD; et al.
JAMA Neurol. 2013;70(1):127-128. doi:10.1001/jamaneurol.2013.587.
JAMA Neurology | 
Original Contribution |  January 01, 2013
A Trial of Scheduled Deep Brain Stimulation for Tourette Syndrome:  Moving Away From Continuous Deep Brain Stimulation Paradigms
Michael S. Okun, MD; Kelly D. Foote, MD; Samuel S. Wu, PhD; et al.
JAMA Neurol. 2013;70(1):85-94. doi:10.1001/jamaneurol.2013.580.
INCLUDES: , Supplemental Content
JAMA Ophthalmology | 
Ophthalmic Molecular Genetics |  January 01, 2013
Cone Structure in Patients With Usher Syndrome Type III and Mutations in the Clarin 1 Gene
Kavitha Ratnam, BS; Hanna Västinsalo, PhD; Austin Roorda, PhD; et al.
JAMA Ophthalmol. 2013;131(1):67-74. doi:10.1001/2013.jamaophthalmol.2.
JAMA Neurology | 
Clinical Trials |  January 01, 2013
A Randomized, Double-blind, Placebo-Controlled Study of Latrepirdine in Patients With Mild to Moderate Huntington Disease
HORIZON Investigators of the Huntington Study Group and European Huntington's Disease Network*
JAMA Neurol. 2013;70(1):25-33. doi:10.1001/2013.jamaneurol.382.
JAMA Neurology | 
Original Contribution |  January 01, 2013
Acute Silent Cerebral Ischemic Events in Children With Sickle Cell Anemia
Charles T. Quinn, MD, MS; Robert C. McKinstry, MD, PhD; Michael M. Dowling, MD, PhD; et al.
JAMA Neurol. 2013;70(1):58-65. doi:10.1001/jamaneurol.2013.576.
JAMA Psychiatry | 
Original Article |  December 01, 2012
A System-Level Transcriptomic Analysis of Schizophrenia Using Postmortem Brain Tissue Samples
Panos Roussos, MD, PhD; Pavel Katsel, PhD; Kenneth L. Davis, MD; et al.
Arch Gen Psychiatry. 2012;69(12):1205-1213. doi:10.1001/archgenpsychiatry.2012.704.
INCLUDES: , Supplemental Content
JAMA Pediatrics | 
Article |  December 01, 2012
Early Occurrence of Obstructive Sleep Apnea in Infants and Children With Cystic Fibrosis
Lucia Spicuzza, MD, PhD; Concetta Sciuto, MD; Salvatore Leonardi, MD; et al.
Arch Pediatr Adolesc Med. 2012;166(12):1165-1169. doi:10.1001/archpediatrics.2012.1177.
JAMA Neurology | 
Neurological Review |  December 01, 2012
Dopa-Responsive Dystonia Revisited:  Diagnostic Delay, Residual Signs, and Nonmotor Signs
Vera Tadic, MD; Meike Kasten, MD; Norbert Brüggemann, MD; et al.
Arch Neurol. 2012;69(12):1558-1562. doi:10.1001/archneurol.2012.574.
INCLUDES: , Supplemental Content
JAMA Ophthalmology | 
Translational Science With Clinical Promise |  December 01, 2012
Treatment of Oxidative Stress With Chelation Therapy
Marco Zarbin, MD, PhD
Arch Ophthalmol. 2012;130(12):1597-1598. doi:10.1001/jamaophthalmol.2013.1306.
JAMA Otolaryngology–Head & Neck Surgery | 
Original Article |  December 01, 2012
Endoscopic Sinus Surgery in Adults With Cystic Fibrosis:  Effect on Lung Function, Intravenous Antibiotic Use, and Hospitalization
Oswaldo A. Henriquez, MD; Lindy L. Wolfenden, MD; Arlene Stecenko, MD; et al.
Arch Otolaryngol Head Neck Surg. 2012;138(12):1167-1170. doi:10.1001/jamaoto.2013.810.
JAMA | 
JAMA Patient Page |  November 28, 2012 FREE
Gout
Ryszard M. Pluta, MD, PhD; Robert H. Shmerling, MD; Alison E. Burke, MA; et al.
JAMA. 2012;308(20):2161. doi:10.1001/jama.2012.4095.
INCLUDES: , Supplemental Content
JAMA | 
Clinical Crossroads |  November 28, 2012
Management of Gout:  A 57-Year-Old Man With a History of Podagra, Hyperuricemia, and Mild Renal Insufficiency
Robert H. Shmerling, MD, Discussant
JAMA. 2012;308(20):2133-2141. doi:10.1001/jama.2012.65028.
INCLUDES: CME , Supplemental Content
JAMA | 
Medical News and Perspectives |  November 21, 2012
Sequencing Inches Closer to the Clinic: Neonatal, Intellectual Disorders Identified
Bridget M. Kuehn, MSJ
JAMA. 2012;308(19):1961-1962. doi:10.1001/jama.2012.14629.
JAMA Surgery | 
Commentary |  November 01, 2012
Effective Perioperative Management of Multiple Endocrine Neoplasia Type 1–Associated Insulinomas
Kazuhiro Hanazaki, MD, PhD; Akihiro Sakurai, MD, PhD; Masaya Munekage, MD; et al.
Arch Surg. 2012;147(11):991-992. doi:10.1001/2013.jamasurg.121.
JAMA Otolaryngology–Head & Neck Surgery | 
Original Article |  November 01, 2012
Outcomes of Adenotonsillectomy in Patients With Prader-Willi Syndrome
Stacy L. Meyer, MD; Mark Splaingard, MD; David R. Repaske, MD, PhD; et al.
Arch Otolaryngol Head Neck Surg. 2012;138(11):1047-1051. doi:10.1001/2013.jamaoto.64.
JAMA Otolaryngology–Head & Neck Surgery | 
Original Article |  November 01, 2012
Improvements in Sensorineural Hearing Loss After Cord Blood Transplant in Patients With Mucopolysaccharidosis
Victor Da Costa, MD; Gwendolyn O’Grady, PhD, MS; Laura Jackson, AuD; et al.
Arch Otolaryngol Head Neck Surg. 2012;138(11):1071-1076. doi:10.1001/jamaoto.2013.597.

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From The JAMA Network
JAMA Ophthalmology
Clinical Sciences  |  May 16, 2013
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  |  May 13, 2013
TRIM Proteins in Therapeutic Membrane Repair of Muscular Dystrophy
Jenna Alloush; Noah Weisleder, PhD
JAMA Ophthalmology
Clinical Trials  |  May 9, 2013
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  |  May 6, 2013
Two New Drugs for Homozygous Familial Hypercholesterolemia:  Managing Benefits and Risks in a Rare Disorder
Robert J. Smith, MD; William R. Hiatt, MD
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