Felipe Botero-Ruiz
Cali, VAC, Colombia
Last Updated: 09/26/2026
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Found 9 publications
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.
Journal: Archivos argentinos de pediatria
Published: January 26, 2018
New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case
Journal: Revista chilena de pediatria
Published: August 30, 2016
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.
Journal: Journal of medical case reports
Published: January 18, 2016
Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.
Journal: Journal of medical case reports
Published: January 13, 2016
Langer-Giedion syndrome with 8q23.1-q24.12 deletion diagnosed by comparative genomic hybridization
Journal: Archivos argentinos de pediatria
Published: September 10, 2015
Chromosome 7q11.23 duplication syndrome. First reported case in Latin America
Journal: Archivos argentinos de pediatria
Published: April 17, 2015
Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii.
Journal: Neurologia (Barcelona, Spain)
Published: December 22, 2014
A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
Journal: Journal of medical case reports
Published: January 08, 2014
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Last Updated: 09/26/2026