Lista de obras - Cole FS - Dominio Público Uruguay

A major deletion in the surfactant protein-B gene causing lethal respiratory distress.

artículo científico publicado en 2007

A method to determine the kinetics of multiple proteins in human infants with respiratory distress syndrome.

artículo científico publicado en 2012

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.

artículo científico publicado en 2001

An intronic ABCA3 mutation that is responsible for respiratory disease ⬇️

artículo científico publicado el 15 de febrero de 2012

Developmental and genetic regulation of human surfactant protein B in vivo.

artículo científico publicado en 2008

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly ⬇️

artículo científico publicado en 2020

Genetic disorders of neonatal respiratory function.

artículo científico publicado en 2001

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

scientific article published on 03 August 2009

Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure.

artículo científico publicado en 2006

Molecular heterogeneity of C2 deficiency

artículo científico publicado en 1992

Neonatal advanced practice nurses as key facilitators in implementing evidence-based practice.

artículo científico publicado en 2009

Patient safety: effective interdisciplinary teamwork through simulation and debriefing in the neonatal ICU.

artículo científico publicado en 2009

Population and disease-based prevalence of the common mutations associated with surfactant deficiency

artículo científico publicado en 2008

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards

artículo científico publicado en 2001

Quantification of rare allelic variants from pooled genomic DNA

artículo científico publicado en 2009

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene

artículo científico publicado en 2008

Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement

scientific article published on 01 September 1994

Lista de obras de Cole FS

A major deletion in the surfactant protein-B gene causing lethal respiratory distress.

A method to determine the kinetics of multiple proteins in human infants with respiratory distress syndrome.

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.

An intronic ABCA3 mutation that is responsible for respiratory disease ⬇️

Developmental and genetic regulation of human surfactant protein B in vivo.

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly ⬇️

Genetic disorders of neonatal respiratory function.

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure.

Molecular heterogeneity of C2 deficiency

Neonatal advanced practice nurses as key facilitators in implementing evidence-based practice.

Patient safety: effective interdisciplinary teamwork through simulation and debriefing in the neonatal ICU.

Population and disease-based prevalence of the common mutations associated with surfactant deficiency

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards

Quantification of rare allelic variants from pooled genomic DNA

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene

Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement