Genetics, Birth Defects

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

Citations 1-10 of 177 total displayed.

Most recent content

ARTICLES
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood: Anne Philippe, Nathalie Boddaert, Laurence Vaivre-Douret, Laurence Robel, Laurent Danon-Boileau, Valérie Malan, Marie-Christine de Blois, Delphine Heron, Laurence Colleaux, Bernard Golse, Monica Zilbovicius, and Arnold Munnich
Pediatrics peds.2007-2584. [Abstract] [Full text] [PDF]

Past content

ARTICLES
Clinical and Genetic Analysis of Unclassifiable Inherited Bone Marrow Failure Syndromes: Juliana T. Teo, Robert Klaassen, Conrad V. Fernandez, Rochelle Yanofsky, John Wu, Josette Champagne, Mariana Silva, Jeffrey H. Lipton, Jossee Brossard, Yvan Samson, Sharon Abish, MacGregor Steele, Kaiser Ali, Uma Athale, Lawrence Jardine, John P. Hand, Elena Tsangaris, Isaac Odame, Joseph Beyene, and Yigal Dror
Pediatrics 2008; 122: e139-e148. [Abstract] [Full text] [PDF]

Articles
Turner Syndrome: Melissa L. Loscalzo
Pediatr. Rev. 2008; 29: 219-227. [Extract] [Full text] [PDF]

Articles
Advances in Genetic Testing and Applications in Newborn Medicine: Kara Goodin, Margaret Chen, Edward Lose, Fady M. Mikhail, and Bruce R. Korf
NeoReviews 2008; 9: e282-e290. [Abstract] [Full text] [PDF]

Articles
Testing Strategy for Inborn Errors of Metabolism in the Neonate: Aditi I. Dagli, Roberto T. Zori, and Bryce A. Heese
NeoReviews 2008; 9: e291-e298. [Abstract] [Full text] [PDF]

Articles
Neonatal Presentations of CHARGE Syndrome and VATER/VACTERL Association: Julie Kaplan and Louanne Hudgins
NeoReviews 2008; 9: e299-e304. [Abstract] [Full text] [PDF]

ARTICLES
Early Determinants of Fractures in Rett Syndrome: Jennepher Downs, Ami Bebbington, Helen Woodhead, Peter Jacoby, Le Jian, Amanda Jefferson, and Helen Leonard
Pediatrics 2008; 121: 540-546. [Abstract] [Full text] [PDF]

STATE-OF-THE-ART REVIEW ARTICLES
Ethical, Legal, and Social Concerns About Expanded Newborn Screening: Fragile X Syndrome as a Prototype for Emerging Issues: Donald B. Bailey, Jr, Debra Skinner, Arlene M. Davis, Ian Whitmarsh, and Cynthia Powell
Pediatrics 2008; 121: e693-e704. [Abstract] [Full text] [PDF]

EXPERIENCE & REASON
Successful Management of Difficult Infusion-Associated Reactions in a Young Patient With Mucopolysaccharidosis Type VI Receiving Recombinant Human Arylsulfatase B (Galsulfase [Naglazyme]): Katherine H. Kim, Celeste Decker, and Barbara K. Burton
Pediatrics 2008; 121: e714-e717. [Abstract] [Full text] [PDF]

EXPERIENCE & REASON
Successful Management of Difficult Infusion-Associated Reactions in a Young Patient With Mucopolysaccharidosis Type VI Receiving Recombinant Human Arylsulfatase B (Galsulfase [Naglazyme]): Katherine H. Kim, Celeste Decker, and Barbara K. Burton
Pediatrics peds.2007-0665. [Abstract] [Full text] [PDF]

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