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COL27A1 gene

Known as: COLLAGEN, TYPE XXVII, ALPHA-1, FLJ11895, MGC11337 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation
Steel syndrome was initially described by H. H. Steel in 1993 in Puerto Rico, at which time he described the clinical findings… 
2017
2017
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first… 
2017
2017
Towarzystwo XXVII Miłośników Książki w Kownie (1930-1940)
2015
2015
La storia come mezzo: l’Odisseo mediatore di Polibio
The text inquires into the meaning of Polybius’ references to Odysseus advancing the hypothesis of reconstructive mediation. The… 
2015
2015
El derecho constitucional a la prueba judicial
El presente estudio tiene la finalidad de presentar el derecho a la prueba en la jurisprudencia de la Corte Constitucional… 
2009
2009
APLICACIÓN DE METODOLOGÍA SEIS SIGMA PARA DISMINUIR INTERVENCIONES EN PROCESO DE FABRICACIÓN DE VIDRIOS APPLICATION OF SIX METHODOLOGY TO REDUCE THE GLASS MANUFACTURE PROCESS INTERVENTIONS
This work was realised in order to reduce to the time average of interventions of a glass cuts process in an important… 
2003
2003
Explaining the Collapse of the British Electrical Supply Industry in the 1880 s : Gas versus Electric Lighting Prices
In the late 1870s there was a tremendous interest in the development of electric lighting, which at long last looked to become… 
2000
2000
Triterpene saponins from Randia formosa.
Review
1999
Review
1999
Hadronic Effects in Two-Body B decays
In these lectures I discuss the impact of soft hadronic physics on predictions for B decays. Unfortunately our tools for… 
Review
1997
Review
1997
Groundwater in the urban environment : proceedings of the XXVII IAH Congress on Groundwater in the Urban Environment/Nottingham/UK/21-27 September 1997
Groundwater plays a critical, but complex and often unrecognised, role in the urban environment. In many cases it is of major… 
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