Genetics & Metabolism

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Mutation Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Colombia Medicine & Life Sciences
Mucopolysaccharidosis III Medicine & Life Sciences
Genes Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Registries Medicine & Life Sciences
methionyl-tRNA formyltransferase Medicine & Life Sciences

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Research Output 1972 2017

Enamel pit defects and taurodontism in a patient with ring chromosome 14 and 47,XXX

Townsend, J. A., Lacour, L. & Scheuerle, A. E. Jan 1 2017 In : Journal of Dentistry for Children. 84, 1, p. 39-43 5 p.

Research output: Contribution to journalArticle

Dental Enamel
Case Management
Epilepsy
Ring Chromosome 14 Syndrome
Taurodontism

Genética clínica comunitaria: Exploración de patología genética en Boyacá, Colombia

Velasco, H. M., Martin, Á. M., Galvis, J., Buelvas, L., Sánchez, Y., Umaña, L. A. & Acosta, J. Jan 1 2017 In : Revista de Salud Publica. 19, 1, p. 61-70 10 p.

Research output: Contribution to journalArticle

Inborn Genetic Diseases
Colombia
Ellis-Van Creveld Syndrome
Mucopolysaccharidosis III
Education
1 Citations

Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia: A Neurogenetic Description

Velasco, H. M., Sanchez, Y., Martin, A. M. & Umaña, L. A. 2017 In : Journal of Child Neurology. 32, 2, p. 177-183 7 p.

Research output: Contribution to journalReview article

Mucopolysaccharidosis III
Colombia
Mutation
Heparitin Sulfate
Pedigree