Nelson D. Rosillo-Purizaca
Lima, LMA, Peru
Last Updated: 09/26/2026
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Found 10 publications
Variant of uncertain significance in the DNAI1 gene in a child with typical primary ciliary dyskinesia phenotype.
Journal: Boletin medico del Hospital Infantil de Mexico
Published: December 26, 2025
Congenital Heart Defects and Skeletal Malformations Syndrome (CHDSKM) Associated with the ABL1 Gene in a Peruvian patient: Case Report.
Journal: Clinical Medicine Insights. Cardiology
Published: July 23, 2025
Feasibility of an environmental scan-based approach to collecting information about factors impacting cancer genetics services in Latin American countries.
Journal: Journal of community genetics
Published: July 23, 2024
Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorder.
Journal: Therapeutic advances in rare disease
Published: July 01, 2024
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Journal: NPJ genomic medicine
Published: January 05, 2024
Genetic and congenital disorders in pre-Hispanic Moche pottery.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 18, 2021
High prevalence of congenital generalized lipodystrophy in Piura, Peru.
Journal: Intractable & rare diseases research
Published: March 24, 2020
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Journal: American journal of medical genetics. Part A
Published: August 08, 2016
Underreporting of health personnel accidents caused by sharp objects in a hospital of Piura, Peru
Journal: Revista peruana de medicina experimental y salud publica
Published: October 02, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026