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Project Title
Determining the genetic basis of EB symptoms through Genotype-Phenotype associations using NGS".
Partner Organisations
Internal ID
11140440
Principal Investigator
Status
TERMINADO
Start Date
2014

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Now showing 1 - 3 of 3
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Publication

Reply to “Whether the absence of tongue papillae caused by various reasons can be regarded as the clinical standard of a certain disease”

2020 , Susanne Krämer , FUENTES BUSTOS, MARIA IGNACIA , María Joao Yubero , Anne W. Lucky , Francis Palisson

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Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance

2017 , M. Campos , REPETTO LISBOA, MARIA GABRIELA , P. Morandé , YUBERO GONCALVEZ, MARIA JOAO , S. Gonzalez , A. Klausegger , P. Schnitzhofer , G. Pohla-Gubo , J. Bauer , PALISSON ETCHARREN, FRANCIS , FUENTES BUSTOS, MARIA IGNACIA

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Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations

2018 , Felipe Mellado , Ignacia Fuentes , Francis Palisson , José I. Vergara , Arturo Kantor

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