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1

Facing the challenges to shorten the diagnostic odyssey: fi..:

Velasco, Harvy Mauricio ; Bertoli-Avella, Aida ; Jaramillo, Carolina Jaramillo...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

2

Determinación de endogamia mediante método de isonimia en l..:

Pacheco-Orozco, Rafael Adrián ; Torres, Leandra Johana ; Velasco, Harvy Mauricio
Revista de la Facultad de Medicina. 67 (2019) 2 - p. 241-245 , 2019

Link: https://doi.org/10.15446..

3

Natural History of Sanfilippo Syndrome Type C in Boyacá, Co..:

Velasco, Harvy Mauricio ; Sanchez, Yasmin ; Martin, Angela Milena.
Journal of Child Neurology. 32 (2016) 2 - p. 177-183 , 2016

Link: https://doi.org/10.1177/..

4

SHOXgene and conserved noncoding element deletions/duplicat..:

Vinasco Sandoval, Gloria Tatiana ; Jaimes, Giovanna Carola ; Barrios, Mauricio Coll..
Molecular Genetics & Genomic Medicine. 2 (2013) 2 - p. 95-102 , 2013

Link: https://doi.org/10.1002/..

5

Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: ..:

Martin, Angela Milena ; Maradei Anaya, Silvia Juliana ; Velasco Parra, Harvy Mauricio
Colombia Medica. , 2015

Link: https://doi.org/10.25100..

6

Hypophosphatemic Rickets in Colombia: A Prevalence-Estimati..:

Huertas-Quintero, Jancy Andrea ; Losada-Trujillo, Natalia ; Cuellar-Ortiz, Diego Alberto.
The Lancet Regional Health - Americas. 7 (2022) - p. 100131 , 2022

Link: https://doi.org/10.1016/..

7

Determination of inbreeding by isonymy in the population of..:

Pacheco-Orozco, Rafael Adrián ; Torres, Leandra Johana ; Velasco, Harvy Mauricio
https://revistas.unal.edu.co/index.php/revfacmed/article/view/68878/71654. , 2019

Link: https://revistas.unal.ed..

8

Heterogeneidad clínica y mutacional en pacientes colombiano..:

Velasco-Parra, Harvy Mauricio ; Maradei-Anaya, Silvia Juliana ; Acosta-Guio, Johanna Carolina..
Colombia Medica. 49 (2018) 2 - p. 182-187 , 2018

Link: https://doi.org/10.25100..

9

Novel mutation of FKBP10 in a pediatric patient with osteog..:

Velasco, Harvy Mauricio ; Morales, Jessica L
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5683792/. , 2017

Link: http://www.ncbi.nlm.nih...

10

SHOX gene and conserved noncoding element deletions/duplica..:

Sandoval, Gloria Tatiana Vinasco ; Jaimes, Giovanna Carola ; Barrios, Mauricio Coll..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960050. , 2014

Link: http://www.ncbi.nlm.nih...

11

Heterogeneidad clínica y mutacional en pacientes colombiano..:

Velasco Parra, Harvy Mauricio
http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/2522. , 2020

Link: http://hdl.handle.net/10..

12

Report of a novel mutation in the slc26a2 gene found in a c..:

Pineda, Tatiana ; Rossi, Antonio ; Bonafe, Luisa..
http://revistas.unal.edu.co/index.php/revfacmed/article/view/37691. , 2013

Link: https://repositorio.unal..

13

Determinación de endogamia mediante método de isonimia en l..:

Rafael Adrián Pacheco-Orozco ; Leandra Johana Torres ; Harvy Mauricio Velasco
https://revistas.unal.edu.co/index.php/revfacmed/article/view/68878. , 2019

Link: https://doi.org/10.15446..

14

Caracterización de pacientes con enfermedades genéticas del..:

Harvy Mauricio Velasco ; Lina Patricia Buelvas
https://www.revistabiomedica.org/index.php/biomedica/article/view/2980. , 2017

Link: https://doi.org/10.7705/..

15

Disostosis frontonasal acromélica (variante rara de displas..:

Adriana Isabel Iglesias González ; Adriana Del Pilar Pinzón Espinosa ; Harvy Mauricio Velasco
https://revistas.udea.edu.co/index.php/iatreia/article/view/8236. , 2010

Link: https://doaj.org/article..

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