Genetics, Birth Defects

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

Citations 71-80 of 219 total displayed.

Past content

ARTICLES
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Michael J. Friez, Julie R. Jones, Katie Clarkson, Herbert Lubs, Dianne Abuelo, Jo-Ann Blaymore Bier, Shashidhar Pai, Richard Simensen, Charles Williams, Philip F. Giampietro, Charles E. Schwartz, and Roger E. Stevenson
Pediatrics 2006; 118: e1687-e1695. [Abstract] [Full text] [PDF]  

EXPERIENCE & REASON
Monozygotic Twins With Turner Syndrome Develop Slipped Capital Femoral Epiphysis on Growth Hormone Therapy

Zeina M. Nabhan and Erica A. Eugster
Pediatrics 2006; 118: e1900-e1903. [Abstract] [Full text] [PDF]  

ARTICLES
A Fast Procedure for the Detection of Defects in Toll-like Receptor Signaling

Horst von Bernuth, Cheng-Lung Ku, Carlos Rodriguez-Gallego, Shenying Zhang, Ben-Zion Garty, László Maródi, Helen Chapel, Maya Chrabieh, Richard L. Miller, Capucine Picard, Anne Puel, and Jean-Laurent Casanova
Pediatrics 2006; 118: 2498-2503. [Abstract] [Full text] [PDF]  

ARTICLES
Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28

Michael J. Friez, Julie R. Jones, Katie Clarkson, Herbert Lubs, Dianne Abuelo, Jo-Ann Blaymore Bier, Shashidhar Pai, Richard Simensen, Charles Williams, Philip F. Giampietro, Charles E. Schwartz, and Roger E. Stevenson
Pediatrics peds.2006-0395. [Abstract] [Full text] [PDF]  

EXPERIENCE & REASON
Monozygotic Twins With Turner Syndrome Develop Slipped Capital Femoral Epiphysis on Growth Hormone Therapy

Zeina M. Nabhan and Erica A. Eugster
Pediatrics peds.2006-0955. [Abstract] [Full text] [PDF]  

ARTICLES
Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)

Joseph T.C. Shieh, Petra Swidler, John A. Martignetti, Maria Celeste M. Ramirez, Imelda Balboni, Julie Kaplan, Jeanette Kennedy, Omar Abdul-Rahman, Gregory M. Enns, Christy Sandborg, Anne Slavotinek, and H. Eugene Hoyme
Pediatrics 2006; 118: e1485-e1492. [Abstract] [Full text] [PDF]  

ARTICLES
Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)

Joseph T.C. Shieh, Petra Swidler, John A. Martignetti, Maria Celeste M. Ramirez, Imelda Balboni, Julie Kaplan, Jeanette Kennedy, Omar Abdul-Rahman, Gregory M. Enns, Christy Sandborg, Anne Slavotinek, and H. Eugene Hoyme
Pediatrics peds.2006-0824. [Abstract] [Full text] [PDF]  

Articles
Focus on Diagnosis: The Alkaline Phosphatase Level: Nuances of a Familiar Test

Sarah D. Corathers
Pediatr. Rev. 2006; 27: 382-384. [Extract] [Full text] [PDF]  

EXPERIENCE & REASON
Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome

Douglas C. Bittel, Nataliya Kibiryeva, and Merlin G. Butler
Pediatrics 2006; 118: e1276-e1283. [Abstract] [Full text] [PDF]  

ARTICLES
Comparison of the 4-Digit Diagnostic Code and the Hoyme Diagnostic Guidelines for Fetal Alcohol Spectrum Disorders

Susan J. Astley
Pediatrics 2006; 118: 1532-1545. [Abstract] [Full text] [PDF]  

[First page]   [Previous page]   [Next page] Pages: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22