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SÍNDROME DE EHLERS-DANLOS CIFOESCOLIÓTICO-FKBP14, PRIMER REPORTE COLOMBIANO.
- Published in:
- Duazary. Revista de la Facultad de Ciencias de la Salud, 2019, v. 16, p. 71
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- Publication type:
- Article
ARTROGRIPOSIS MÚLTIPLE CONGÉNITA EN GEMELO MONOCORIÓNICO BIAMNIÓTICO. REPORTE DE CASO Y REVISIÓN DE LA LITERATURA.
- Published in:
- Revista Colombiana de Obstetricia y Ginecologia, 2009, v. 60, n. 1, p. 79, doi. 10.18597/rcog.357
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- Publication type:
- Article
Síndrome de Morquio: nueva mutación del gen GALNS en dos hermanos del sur-occidente colombiano. Análisis clínico, molecular y bioinformático.
- Published in:
- Revista Mexicana de Pediatria, 2016, v. 83, n. 3, p. 85
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- Publication type:
- Article
Síndrome de pterigium múltiple letal: reporte de caso.
- Published in:
- Revista Chilena de Obstetricia y Ginecología, 2013, v. 78, n. 3, p. 236, doi. 10.4067/S0717-75262013000300011
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- Publication type:
- Article
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
- Published in:
- 2014
- By:
- Publication type:
- journal article