Genetics & Dysmorphology

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

Citations 131-140 of 240 total displayed.

Past content

RADIOLOGY
Fetal Urinary Tract Malformations

Beverly P. Wood
AAP Grand Rounds 2004; 12: 55-a-56-a. [Extract] [Full text] [PDF]  

CRITICAL CARE
Outcome of Hypoplastic Left Heart Syndrome

Stephanie Burns Wechsler
AAP Grand Rounds 2004; 12: 59-60. [Extract] [Full text] [PDF]  

PLASTIC SURGERY
Differential Diagnosis of the Trapezoid-Shaped Head

Fernando Burstein
AAP Grand Rounds 2004; 12: 62-63. [Extract] [Full text] [PDF]  

ELECTRONIC ARTICLE
Congenital Aplastic Anemia Caused by Mutations in the SBDS Gene: A Rare Presentation of Shwachman-Diamond Syndrome

Taco W. Kuijpers, Eline Nannenberg, Marielle Alders, Robbert Bredius, and Raoul C. M. Hennekam
Pediatrics 2004; 114: e387-e391. [Abstract] [Full text] [PDF]  

ENDOCRINOLOGY
Maternal PKU Effects on Congenital Anomalies and Developmental Outcome of Offspring

Surendra K. Varma
AAP Grand Rounds 2004; 12: 17-18. [Extract] [Full text] [PDF]  

CARDIOLOGY
Cardiac Surgery and Trisomies 13 and 18

David A. Danford
AAP Grand Rounds 2004; 12: 19. [Extract] [Full text] [PDF]  

ARTICLE
Molecular Epidemiology of Childhood Mitochondrial Encephalomyopathies in a Finnish Population: Sequence Analysis of Entire mtDNA of 17 Children Reveals Heteroplasmic Mutations in tRNA^Arg, tRNA^Glu, and tRNA^Leu(UUR) Genes

Johanna Uusimaa, Saara Finnilä, Anne M. Remes, Heikki Rantala, Leena Vainionpää, Ilmo E. Hassinen, and Kari Majamaa
Pediatrics 2004; 114: 443-450. [Abstract] [Full text] [PDF]  

ELECTRONIC ARTICLE
A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy

Silvia Stojanov, Michael Weiss, Peter Lohse, and Bernd H. Belohradsky
Pediatrics 2004; 114: e124-e127. [Abstract] [Full text] [PDF]  

CRITICAL CARE
Genes and Meningococcal Disease

Susan L. Bratton
AAP Grand Rounds 2004; 11: 66-67. [Extract] [Full text] [PDF]  

PLASTIC SURGERY
Craniofacial Deformity from Uncorrected Congenital Torticollis

Fernando D. Burstein
AAP Grand Rounds 2004; 11: 68. [Extract] [Full text] [PDF]  

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