about
Genetic disorders of neonatal respiratory function.Alveolar capillary dysplasia with misalignment of pulmonary veins and anterior segment dysgenesis of the eye: a report of a new association and review of the literature.Quantification of rare allelic variants from pooled genomic DNAA method to determine the kinetics of multiple proteins in human infants with respiratory distress syndrome.Recombination as a mechanism for sporadic mutation in the surfactant protein-C geneDevelopmental and genetic regulation of human surfactant protein B in vivo.Population and disease-based prevalence of the common mutations associated with surfactant deficiencyInherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genesNeonatal advanced practice nurses as key facilitators in implementing evidence-based practice.Patient safety: effective interdisciplinary teamwork through simulation and debriefing in the neonatal ICU.Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure.A major deletion in the surfactant protein-B gene causing lethal respiratory distress.Molecular heterogeneity of C2 deficiencySurfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacementPopulation-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards
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description
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Cole FS
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P31
P496
0000-0002-3797-9369