Julian A. Cheyne-Ramirez
Cali, VAC, Colombia
Last Updated: 09/26/2026
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Found 11 publications
New variant in PLP1 gene associated with X-linked spastic paraplegia type 2: First report of a family in Colombia.
Journal: Biomedica : revista del Instituto Nacional de Salud
Published: October 23, 2024
Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline.
Journal: American journal of medical genetics. Part A
Published: April 04, 2023
Epileptic Encephalopathy with Variants in the PHACTR1 and AFF2 Genes: A Case Report.
Journal: Cytogenetic and genome research
Published: August 18, 2021
Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.
Journal: The application of clinical genetics
Published: March 16, 2021
Fragile X syndrome and connective tissue dysregulation.
Journal: Clinical genetics
Published: October 16, 2018
Increased severity of fragile X spectrum disorders in the agricultural community of Ricaurte, Colombia.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: August 14, 2018
Tremor-Ataxia syndrome and primary ovarian insufficiency in an FMR1 premutation carrier.
Journal: Colombia medica (Cali, Colombia)
Published: January 05, 2018
Sotos syndrome diagnosed by comparative genomic hybridisation
Journal: Revista chilena de pediatria
Published: June 24, 2015
A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype
Journal: Revista chilena de pediatria
Published: May 20, 2015
Showing 1-11 of 11
Last Updated: 09/26/2026