Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 241-250 of 1368 total displayed.

Past content

Original Contributions
Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy

Marie-Louise Sveen; Jens Jakob Thune; Lars Køber; John Vissing
Arch Neurol 2008; 65: 1196-1201. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa

John H. Fingert; Kean Oh; Mina Chung; Todd E. Scheetz; Jeaneen L. Andorf; Rebecca M. Johnson; Val C. Sheffield; Edwin M. Stone
Arch Ophthalmol 2008; 126: 1301-1307. [Abstract] [Full text] [PDF]  

Small Case Series
Familial Retinoblastoma With Unilateral and Unifocal Involvement in 2 Families

Shaden Sarafzadeh; Zélia M. Corrêa; James J. Augsburger
Arch Ophthalmol 2008; 126: 1308-1309. [Extract] [Full text] [PDF]  

Health Agencies Update
Autism Genes

Bridget M. Kuehn
JAMA 2008; 300: 891-c. [Extract] [Full text] [PDF]  

The World in Medicine
Gene Boosts Statin Risk

Joan Stephenson
JAMA 2008; 300: 782. [Extract] [Full text] [PDF]  

Original Investigations
Prediction of Progression to Overt Hypothyroidism or Hyperthyroidism in Female Relatives of Patients With Autoimmune Thyroid Disease Using the Thyroid Events Amsterdam (THEA) Score

Thea G. A. Strieder; Jan G. P. Tijssen; Björn E. Wenzel; Erik Endert; Wilmar M. Wiersinga
Arch Intern Med 2008; 168: 1657-1663. [Abstract] [Full text] [PDF]  

Special Articles
Trauma and Coagulopathy: A New Paradigm to Consider

Jana B. A. MacLeod
Arch Surg 2008; 143: 797-801. [Extract] [Full text] [PDF]  

Invited Critique
Trauma and Coagulopathy—Invited Critique

Elliott R. Haut
Arch Surg 2008; 143: 802. [Extract] [Full text] [PDF]  

Original Articles
Expression of Cyclooxygenase and Lipoxygenase Enzymes in Sinonasal Mucosa of Patients With Cystic Fibrosis

Jonathan M. Owens; Kenneth R. Shroyer; Todd T. Kingdom
Arch Otolaryngol Head Neck Surg 2008; 134: 825-831. [Abstract] [Full text] [PDF]  

Original Articles
Apolipoprotein E 4 Allele Genotype and the Effect of Depressive Symptoms on the Risk of Dementia in Men: The Honolulu-Asia Aging Study

Fumiko Irie; Kamal H. Masaki; Helen Petrovitch; Robert D. Abbott; G. Webster Ross; Dennis R. Taaffe; Lenore J. Launer; Lon R. White
Arch Gen Psychiatry 2008; 65: 906-912. [Abstract] [Full text] [PDF]  

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