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List of works by Susan Kirwin

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia

scientific article published on 6 August 2015

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism ⬇️

scientific article published on January 1, 2012

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intactNKX2-1

scientific article published on 20 November 2012

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

scientific article published on 21 May 2013

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

article

Immaturity or starvation? Longitudinal study of leptin levels in premature infants.

scientific article published on July 2001

Leptin enhances lung maturity in the fetal rat

scientific article published on 01 August 2006

Recombinant human Clara cell secretory protein treatment increases lung mRNA expression of surfactant proteins and vascular endothelial growth factor in a premature lamb model of respiratory distress syndrome.

scientific article

Tafazzin splice variants and mutations in Barth syndrome.

scientific article published on 19 November 2013

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