Search Results - "Purizaca Rosillo, Nelson"
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Genetic and congenital disorders in pre‐Hispanic Moche pottery
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-06-2021)“…The Moche were a pre‐Hispanic, pre‐Incan people who inhabited northwestern Peru from 50 to 850 AD and left behind a large body of ceramic artwork. We present…”
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High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli–Seip syndrome
Published in American journal of medical genetics. Part A (01-02-2017)“…Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of disorders characterized by the absence of functional adipose tissue. We…”
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High prevalence of congenital generalized lipodystrophy in Piura, Peru
Published in Intractable & Rare Diseases Research (01-02-2020)“…Congenital generalized lipodystrophy (CGL) is an autosomal recessive rare disease, with a worldwide prevalence of around 1 in every 12 million people. There…”
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Desorden esquelético con malformaciones faciales en cerámico de la cultura Moche
Published in Acta médica peruana (31-03-2020)“…La cultura Moche se desarrolló entre los años 200 y 850 d. C. en la costa norte del Perú. Sus vasijas de cerámica presentan un gran nivel de detalle, alto…”
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Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 3; peer review: 2 approved]
Published in F1000 research (2023)“…Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1…”
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Producción científica en una universidad pública peruana beneficiaria del canon
Published in Anales de la Facultad de Medicina (Lima, Peru : 1990) (12-04-2016)“…Las universidades tienen entre sus principales objetivos a la investigación científica como medio para generar conocimientos útiles para el desarrollo de las…”
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Gastrointestinal stromal tumour of the rectum and intestinal obstruction: case report
Published in Ecancermedicalscience (10-11-2020)“…We report the case of a 75-year-old female patient with a big tumour in the lower rectum with intestinal obstruction and lower gastrointestinal bleeding…”
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Salud y alteraciones culturales durante la época inca: una aproximación a través de la obra de Felipe Guamán Poma de Ayala
Published in Anales de antropología (02-02-2024)“…El objetivo de la investigación fue identificar las referencias e ilustraciones de las enfermedades o alteraciones morfológicas corporales presentes durante la…”
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Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 1; peer review: 1 approved, 1 approved with reservations]
Published in F1000 research (2023)“…Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in…”
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Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2 [version 2; peer review: 2 approved]
Published in F1000 research (2023)“…Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1…”
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Gender Associated with the Intention to Choose a Medical Specialty in Medical Students: A Cross-Sectional Study in 11 Countries in Latin America
Published in PloS one (12-08-2016)“…The selection of a medical specialty has been associated with multiple factors, such as personal preferences, academic exposure, motivational factors and…”
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Feasibility of an environmental scan-based approach to collecting information about factors impacting cancer genetics services in Latin American countries
Published in Journal of community genetics (14-10-2024)“…Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availability and implementation. Understanding…”
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Health research priorities in medical thesis at National University of Piura, 2010-2014
Published in Horizonte médico (Lima, Peru) (01-02-2016)“…OBJETIVES To determine the frequency of thesis to obtain the medical degree at the NationalUniversity of Piura (UNP) whose aim was framed within the Peru's…”
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Clinical genome sequencing in patients with suspected rare genetic disease in Peru
Published in Npj genomic medicine (28-10-2024)“…There is limited access to molecular genetic testing in most low- and middle-income countries. The iHope program provides clinical genome sequencing (cGS) to…”
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Prioridades de investigación en salud en las tesis de medicina de la Universidad Nacional de Piura, 2010-2014
Published in Horizonte médico (Lima, Peru) (31-03-2016)Get full text
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Subregistro de accidentes por objetos punzocortantes en personal de salud de un hospital de Piura, Perú
Published in Revista peruana de medicina experimental y salud pública (16-03-2014)Get full text
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Factors associated with level of knowledge and attitudes toward research among medical students in Peru, 2011/Factores asociados con el nivel de conocimientos y la actitud hacia lainvestigacion en estudiantes de medicina en Peru, 2011
Published in Revista panamericana de salud pública (01-03-2013)“…Objective. To identify the factors associated with level of knowledge and attitudes toward research among undergraduate medical students in Peru. Methods. In…”
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