Genetics & Metabolism

Research Output 1972 2019

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Review article
2019

Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS, May 1 2019, In : Pediatrics. 143, 5, Y.

Research output: Contribution to journalReview article

Open Access
Neurofibromatosis 1
Inheritance Patterns
Health
Peripheral Nervous System
Growth and Development
2017
5 Citations (Scopus)

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
2016
9 Citations (Scopus)

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Care4Rare Canada Consortium & UCLA Clinical Genomics Center, Feb 1 2016, In : Human Mutation. 37, 2, p. 148-154 7 p.

Research output: Contribution to journalReview article

Mandibulofacial Dysostosis
Microcephaly
Databases
Mutation
Esophageal Atresia