Genetics, Birth Defects

Contributing journals to this collection:
AAP Grand Rounds, NeoReviews, Pediatrics, and Pediatrics in Review

Citations 91-100 of 219 total displayed.

Past content

ARTICLES
Cardiac and Clinical Phenotype in Barth Syndrome

Carolyn T. Spencer, Randall M. Bryant, Jane Day, Iris L. Gonzalez, Steven D. Colan, W. Reid Thompson, Julie Berthy, Sharon P. Redfearn, and Barry J. Byrne
Pediatrics 2006; 118: e337-e346. [Abstract] [Full text] [PDF]  

ARTICLES
Characterization of Dermatoglyphics in PHOX2B-Confirmed Congenital Central Hypoventilation Syndrome

Emily S. Todd, Nicole M. Scott, Debra E. Weese-Mayer, Seth M. Weinberg, Elizabeth M. Berry-Kravis, Jean M. Silvestri, Anna S. Kenny, Susan A. Hauptman, Lili Zhou, and Mary L. Marazita
Pediatrics 2006; 118: e408-e414. [Abstract] [Full text] [PDF]  

ARTICLES
Cardiac and Clinical Phenotype in Barth Syndrome

Carolyn T. Spencer, Randall M. Bryant, Jane Day, Iris L. Gonzalez, Steven D. Colan, W. Reid Thompson, Julie Berthy, Sharon P. Redfearn, and Barry J. Byrne
Pediatrics peds.2005-2667. [Abstract] [Full text] [PDF]  

STATE-OF-THE-ART REVIEW ARTICLES
Pediatric Autonomic Disorders

Felicia B. Axelrod, Gisela G. Chelimsky, and Debra E. Weese-Mayer
Pediatrics 2006; 118: 309-321. [Abstract] [Full text] [PDF]  

Articles
Mental Retardation: Overview and Diagnosis

William Otis Walker, Jr and Chris Plauché Johnson
Pediatr. Rev. 2006; 27: 204-212. [Extract] [Full text] [PDF]  

FROM THE AMERICAN ACADEMY OF PEDIATRICS
Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays

John B. Moeschler, Michael Shevell and the Committee on Genetics
Pediatrics 2006; 117: 2304-2316. [Abstract] [Full text] [PDF]  

ARTICLES
Cri du Chat Syndrome and Congenital Heart Disease: A Review of Previously Reported Cases and Presentation of an Additional 21 Cases From the Pediatric Cardiac Care Consortium

Christine Hills, James H. Moller, Marsha Finkelstein, Jamie Lohr, and Lisa Schimmenti
Pediatrics 2006; 117: e924-e927. [Abstract] [Full text] [PDF]  

ARTICLES
Third Ventricle Enlargement Among Newborn Infants With Trisomy 21

Michael S. Schimmel, Cathy Hammerman, Ruben Bromiker, and Itai Berger
Pediatrics 2006; 117: e928-e931. [Abstract] [Full text] [PDF]  

ARTICLES
Cri du Chat Syndrome and Congenital Heart Disease: A Review of Previously Reported Cases and Presentation of an Additional 21 Cases From the Pediatric Cardiac Care Consortium

Christine Hills, James H. Moller, Marsha Finkelstein, Jamie Lohr, and Lisa Schimmenti
Pediatrics peds.2005-1012. [Abstract] [Full text] [PDF]  

EXPERIENCE AND REASON
Prenatal Diagnosis of Familial Type I Choledochal Cyst

Matthew S. Clifton, Ruth B. Goldstein, Anne Slavotinek, Mary E. Norton, Hanmin Lee, Jody Farrell, and Kerilyn K. Nobuhara
Pediatrics 2006; 117: e596-e600. [Abstract] [Full text] [PDF]  

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