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Genetics & Dysmorphology
Contributing journals to this collection:
AAP Grand Rounds,
NeoReviews,
Pediatrics,
and Pediatrics in Review
Citations 31-40 of 240 total displayed.
- SPECIAL ARTICLES
Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations
- Laurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, Bert L. Callewaert, Anne H. Child, Chantal Stheneur, Christine Binquet, Elodie Gautier, Bertrand Chevallier, Frédéric Huet, Bart L. Loeys, Eloisa Arbustini, Karin Mayer, Mine Arslan-Kirchner, Anatoli Kiotsekoglou, Paolo Comeglio, Maurizia Grasso, Dorothy J. Halliday, Christophe Béroud, Claire Bonithon-Kopp, Mireille Claustres, Peter N. Robinson, Lesley Adès, Julie De Backer, Paul Coucke, Uta Francke, Anne De Paepe, Catherine Boileau, and Guillaume Jondeau
Pediatrics 2009; 123: 391-398.
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- ARTICLES
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis
- Xin-Yan Lu, Mai T. Phung, Chad A. Shaw, Kim Pham, Sarah E. Neil, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Pawel Stankiewicz, Sung-Hae Lee Kang, Seema Lalani, A. Craig Chinault, James R. Lupski, Sau W. Cheung, and Arthur L. Beaudet
Pediatrics 2008; 122: 1310-1318.
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- Articles
Chronic Kidney Disease in Children
- Dilys A. Whyte and Richard N. Fine
Pediatr. Rev. 2008; 29: 335-341.
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- Articles
Inherited Surfactant Disorders
- W. Adam Gower, Susan E. Wert, and Lawrence M. Nogee
NeoReviews 2008; 9: e458-e467.
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- Articles
Lung Transplantation for Inherited Disorders of Surfactant Metabolism
- Albert Faro and Aaron Hamvas
NeoReviews 2008; 9: e468-e476.
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- ARTICLES
Chromosomal Integration of Human Herpesvirus 6 Is the Major Mode of Congenital Human Herpesvirus 6 Infection
- Caroline Breese Hall, Mary T. Caserta, Kenneth Schnabel, Lynne M. Shelley, Andrea S. Marino, Jennifer A. Carnahan, Christina Yoo, Geraldine K. Lofthus, and Michael P. McDermott
Pediatrics 2008; 122: 513-520.
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- ARTICLES
Pediatric Residents’ Use of Jargon During Counseling About Newborn Genetic Screening Results
- Michael Farrell, Lindsay Deuster, Jodi Donovan, and Stephanie Christopher
Pediatrics 2008; 122: 243-249.
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- Articles
Index of Suspicion
- Sergio Fanella, Joanne Embree, Bhawana Arora, Sauraby Goel, Frank J. Probst, Ankita Patel, and Arthur L. Beaudet
Pediatr. Rev. 2008; 29: 281-287.
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- Articles
Cell-free Fetal DNA in Maternal Plasma: Progress and Potential
- James F. Smith and Yair Blumenfeld
NeoReviews 2008; 9: e332-e337.
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- Articles
Challenges of Giant Omphalocele: From Fetal Diagnosis to Follow-up
- Alexis S. Davis, Yair Blumenfeld, Erika Rubesova, Claire Abrajano, Yasser Y. El-Sayed, Sanjeev Dutta, Richard A. Barth, and Susan R. Hintz
NeoReviews 2008; 9: e338-e347.
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