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
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Registries Medicine & Life Sciences
Incidence Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Colombia Medicine & Life Sciences
Pregnancy 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: Research - peer-reviewArticle

Dental Enamel
Ring Chromosome 14 Syndrome
Taurodontism
Case Management
Epilepsy

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: Research - peer-reviewArticle

Inborn Genetic Diseases
Colombia
Education
Incidence
Ellis-Van Creveld Syndrome

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: Research - peer-reviewReview article

Mucopolysaccharidosis III
Colombia
Mutation
Population
Heparitin Sulfate