Knowledge level of medical students and physicians about rare diseases in Lima, Peru
Flores, Andrea, Burgos, Sarah, Abarca-Barriga, Hugo
Published in Intractable & Rare Diseases Research (30.11.2022)
Published in Intractable & Rare Diseases Research (30.11.2022)
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Journal Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases
Montenegro‐Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezdirici, Alper, Pehlivan, Davut, Meng, Qingchang, Rosenfeld, Jill A., Jhangiani, Shalini N., Madan‐Khetarpal, Suneeta, Scott, Daryl A., Abarca‐Barriga, Hugo, Trubnykova, Milana, Gingras, Marie‐Claude, Muzny, Donna M., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Gibbs, Richard A.
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Journal Article
Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome
Abarca-Barriga, Hugo Hernán, Laso-Salazar, María Cristina, Orihuela-Tacuri, Diego, Chirinos-Saire, Jenny, Venero-Nuñez, Anahí
Published in BMC pediatrics (07.03.2024)
Published in BMC pediatrics (07.03.2024)
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Journal Article
Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient
Abarca-Barriga, Hugo H., Chavesta Velásquez, Felix, Punil Luciano, Renzo
Published in Egyptian Journal of Medical Human Genetics (01.12.2022)
Published in Egyptian Journal of Medical Human Genetics (01.12.2022)
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Journal Article
Genetics and genomics in Peru: Clinical and research perspective
Guio, Heinner, Poterico, Julio A., Levano, Kelly S., Cornejo‐Olivas, Mario, Mazzetti, Pilar, Manassero‐Morales, Gioconda, Ugarte‐Gil, Manuel F., Acevedo‐Vásquez, Eduardo, Dueñas‐Roque, Milagros, Piscoya, Alejandro, Fujita, Ricardo, Sanchez, Cesar, Casavilca‐Zambrano, Sandro, Jaramillo‐Valverde, Luis, Sullcahuaman‐Allende, Yasser, Iglesias‐Pedraz, Juan M., Abarca‐Barriga, Hugo
Published in Molecular genetics & genomic medicine (01.11.2018)
Published in Molecular genetics & genomic medicine (01.11.2018)
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Journal Article
A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome
Abarca Barriga, Hugo H., Caballero, Nathaly, Trubnykova, Milana, Castro‐Mujica, María del Carmen, La Serna‐Infantes, Jorge E., Vásquez, Flor, Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.11.2018)
Published in American journal of medical genetics. Part A (01.11.2018)
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Journal Article
Genetic basis of pulmonary arterial hypertension
Castro-Mujica, Maria del Carmen, Abarca Barriga, Hugo
Published in Revista de la Facultad de Medicina Humana (11.09.2020)
Published in Revista de la Facultad de Medicina Humana (11.09.2020)
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Journal Article
Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
La Serna-Infantes, Jorge, Pastor, Miguel Chávez, Trubnykova, Milana, Velásquez, Félix Chavesta, Sotomayor, Flor Vásquez, Barriga, Hugo Abarca
Published in European journal of medical genetics (01.07.2018)
Published in European journal of medical genetics (01.07.2018)
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Journal Article
Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú
Abarca Barriga, Hugo H., Vásquez Sotomayor, Flor de Milagros, Trubnykova, Milana, Chavesta Velásquez, Félix, Chávez Pastor, Miguel A., Gallardo Jugo, Bertha E., Poterico Rojas, Julio, Caballero Bedón, Nathaly, La Serna Infantes, Jorge, Vásquez Loarte, Tania
Published in Acta médica peruana (01.07.2020)
Published in Acta médica peruana (01.07.2020)
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Journal Article
Calidad de los fenotipos humanos en pacientes con discapacidad intelectual con estudios de secuenciación de exoma en un hospital pediátrico peruano
Abarca Barriga, Hugo H, Custodio Sánchez, Pedro
Published in Anales de la Facultad de Medicina (Lima, Peru : 1990) (22.09.2024)
Published in Anales de la Facultad de Medicina (Lima, Peru : 1990) (22.09.2024)
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Journal Article
GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
Trubnykova, Milana, Bazalar Montoya, Jeny, La Serna-Infantes, Jorge, Vásquez Sotomayor, Flor, Castro Mujica, María del Carmen, Abarca Barriga, Hugo Hernán
Published in Molecular syndromology (01.07.2019)
Published in Molecular syndromology (01.07.2019)
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Journal Article
Factores de riesgo en las enfermedades genéticas
Abarca Barriga, Hugo H., Chávez Pastor, Miguel, Trubnykova, Milana, La Serna-Infantes, Jorge E., Poterico, Julio A.
Published in Acta médica peruana (01.01.2018)
Published in Acta médica peruana (01.01.2018)
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Journal Article
Management of genetic diseases: Present and future
Abarca Barriga, Hugo Hernán, Trubnykova, Milana, Castro Mujica, María del Carmen
Published in Revista de la Facultad de Medicina Humana (15.03.2021)
Published in Revista de la Facultad de Medicina Humana (15.03.2021)
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Journal Article
Análisis de micromatrices cromosómicas en niños peruanos con retraso del desarrollo psicomotor o discapacidad intelectual
Abarca-Barriga, Hugo H., Chávez Pastor, Miguel A., Trubnykova, Milana, Vásquez, Flor, Poterico, Julio A.
Published in Revista peruana de medicina experimental y salud pública (01.07.2017)
Published in Revista peruana de medicina experimental y salud pública (01.07.2017)
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