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Journal Articles

in Genetic Disorders
 1-20 of 70 Articles
Research Letters | 
Antti Saari, MD; Ulla Sankilampi, MD, PhD; Leo Dunkel, MD, PhD
JAMA Pediatr. 2013;167(2):194-195. doi:10.1001/jamapediatrics.2013.436.

Article | 
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.

Special Feature | 
Arch Pediatr Adolesc Med. 2012;166(7):658. doi:10.1001/archpediatrics.2012.189b.

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Bénédicte Coulm; Joel Coste, MD, PhD; Véronique Tardy, MD; et al.
Arch Pediatr Adolesc Med. 2012;166(2):113-120. doi:10.1001/archpediatrics.2011.774.
INCLUDES: , Supplemental Content

Editorial | 
Michael G. Yost, PhD; James Bradford Burch, PhD
Arch Pediatr Adolesc Med. 2011;165(10):959-961. doi:10.1001/archpediatrics.2011.169.

Editorial | 
Lisa Saiman, MD, MPH; Mitchell B. Cohen, MD
Arch Pediatr Adolesc Med. 2011;165(9):867-868. doi:10.1001/archpediatrics.2011.133.

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Miriam M. Treggiari, MD, PhD, MPH; George Retsch-Bogart, MD; Nicole Mayer-Hamblett, PhD; et al.
Arch Pediatr Adolesc Med. 2011;165(9):847-856. doi:10.1001/archpediatrics.2011.136.
INCLUDES: CME

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Arch Pediatr Adolesc Med. 2011;165(4):368. doi:10.1001/archpediatrics.2011.23-b.

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Arch Pediatr Adolesc Med. 2010;164(12):1166. doi:10.1001/archpediatrics.2010.228-b.

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Gary L. McPhail, MD; Jeanne Weiland, RN; James D. Acton, MD; et al.
Arch Pediatr Adolesc Med. 2010;164(10):957-960. doi:10.1001/archpediatrics.2010.178.

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Arch Pediatr Adolesc Med. 2010;164(9):876. doi:10.1001/archpediatrics.2010.150-b.

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Arch Pediatr Adolesc Med. 2010;164(5):490. doi:10.1001/archpediatrics.2010.53-b.

The Pediatric Forum | 
Michael D. Warren, MD, MPH; Patrick G. Arbogast, PhD; Judy A. Dudley, BS; et al.
Arch Pediatr Adolesc Med. 2010;164(3):298-299. doi:10.1001/archpediatrics.2009.286.

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Ankie Lebon, MSc; Joost A. M. Labout, MD; Henri A. Verbrugh, MD, PhD; et al.
Arch Pediatr Adolesc Med. 2009;163(8):745-749. doi:10.1001/archpediatrics.2009.117.

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Arch Pediatr Adolesc Med. 2009;163(8):766. doi:10.1001/archpediatrics.2009.126-b.

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Elizabeth Berger, MD; Natasha Saunders, MD; Lisa Wang, MSc; et al.
Arch Pediatr Adolesc Med. 2009;163(3):251-255. doi:10.1001/archpediatrics.2008.545.

Article |  FREE
Beth A. Tarini, MD, MS; Dianne Singer, MPH; Sarah J. Clark, MPH; et al.
Arch Pediatr Adolesc Med. 2008;162(11):1079-1083. doi:10.1001/archpedi.162.11.1079.

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Diane Rhee, MD; David Solowiejczyk, MD; Karen Altmann, MD; et al.
Arch Pediatr Adolesc Med. 2008;162(9):882-885. doi:10.1001/archpedi.162.9.882.

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Teija Dunder, MD; Terhi Tapiainen, MD, PhD; Tytti Pokka, BSc; et al.
Arch Pediatr Adolesc Med. 2007;161(10):972-977. doi:10.1001/archpedi.161.10.972.

Article |  FREE
Dhenuka K. Radhakrishnan, MD; Mary Corey, PhD; Sharon D. Dell, MD
Arch Pediatr Adolesc Med. 2007;161(6):603-606. doi:10.1001/archpedi.161.6.603.

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From The JAMA Network
JAMA Ophthalmology
Ophthalmic Molecular Genetics  | 
Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt:  Myopia and Heart Disease
Hanan H. Afifi, MD, PhD; Amira A. Abdel Azeem, MD; Hala T. El-Bassyouni, MD, PhD; et al.
JAMA Neurology
Original Contribution  | 
Fragile X–Associated Tremor/Ataxia Syndrome:  Influence of the FMR1 Gene on Motor Fiber Tracts in Males With Normal and Premutation Alleles
Jun Yi Wang, PhD; David Hessl, PhD; Andrea Schneider, PhD; et al.
JAMA Dermatology
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JAMA Neurology
Original Contribution  | 
Systemic Metabolic Abnormalities in Adult-onset Acid Maltase Deficiency:  Beyond Muscle Glycogen Accumulation
Juan M. Pascual, MD, PhD; Charles R. Roe, MD