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Jorge La Serna‐Infantes

Observed names: Jorge E La Serna-Infantes, Jorge E. La Serna-Infantes, Jorge E. La Serna‐Infantes, Jorge Estanislao La Serna Infantes, Jorge La Serna, Jorge La Serna Infantes, Jorge La Serna-Infantes, La Serna- Infantes, Jorge, La Serna-Infantes, Jorge
ORCID: 0000-0003-2270-7173
Observed ORCID: 0000-0003-2270-7173
OpenAlex ID: A5016825935
Williams–Beuren syndrome in diverse populations
2018 · Paul Kruszka, Antonio R. Porras, et al. · American Journal of Medical Genetics Part A · 77
A novel ASPH variant extends the phenotype of Shawaf‐Traboulsi syndrome
2018 · Hugo H. Abarca Barriga, Nathaly Caballero, et al. · American Journal of Medical Genetics Part A · 25
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
2021 · María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, et al. · Molecular Genetics & Genomic Medicine · 12
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Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3
2018 · Jorge La Serna-Infantes, Miguel Chávez Pastor, et al. · European Journal of Medical Genetics · 12
Factores de riesgo en las enfermedades genéticas
2018 · Hugo H. Abarca Barriga, Miguel Chávez Pastor, et al. · ACTA MEDICA PERUANA · 9
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GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature
2019 · Milana Trubnykova, Jeny Bazalar Montoya, et al. · Molecular Syndromology · 8
Clinical genome sequencing in patients with suspected rare genetic disease in Peru
2024 · Jeny Bazalar-Montoya, Mario Cornejo-Olivas, et al. · npj Genomic Medicine · 6
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Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú
2020 · Hugo H. Abarca Barriga, Flor de Milagros Vásquez Sotomayor, et al. · ACTA MEDICA PERUANA · 6
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Estado Nutricional Y Funcional En Pacientes Con Enfermedad Pulmonar Obstructiva Crónica: Efectos De La Suplementación Nutricional Oral (estudio Ofos).
2017 · Mireia Morera Inglès, Maria del Pilar Benito Martínez, et al. · Nutrición Hospitalaria · 5
Síndrome de Pfeiffer tipo 2: diagnóstico prenatal. Reporte de caso y revisión de la literatura
2019 · Erasmo Huertas Tacchino, Jorge La Serna-Infantes, et al. · Revista Peruana de Ginecología y Obstetricia · 3
Knowledge and attitudes toward rare diseases in Lima, Peru: a cross-sectional study on public awareness of healthcare
2026 · Hugo Hernán Abarca-Barriga, Rossana Alvariño Tello, et al. · Future Rare Diseases · 1
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Knowledge and attitudes toward rare diseases in Lima, Peru: a cross-sectional study on public awareness of healthcare
2026 · Abarca-Barriga, Hugo Hernán, Tello, Rossana Alvariño, et al. · Figshare
Knowledge and attitudes about rare diseases in the general population of Peru
2024 · Hugo Hernán Abarca-Barriga, Rossana Alvariño Tello, et al. · Research Square
P624: Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru
2024 · Erin Thorpe, Milagros Duenas-Roque, et al. · Genetics in Medicine Open
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Genetic studies to determine the risk of non-ischemic sudden death: review article
2022 · María del Carmen Castro-Mujica, Juan C Gómez de la Torre, et al. · Revista de la Facultad de Medicina Humana
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Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica.
2022 · Laura Zelada-Ríos, Elison Sarapura-Castro, et al. · Revista de Neuro-Psiquiatría
Dataset - Mlpa Followed by Target-ngs to Detect Mutations in the Dystrophin Gene of Peruvian Patients Suspected of Dmd/dmb
2021 · Guevara-Fujita, María Luisa., Huaman-Dianderas, Francia, et al. · Figshare
Cover Image, Volume 176A, Number 5, May 2018
2018 · Paul Kruszka, Antonio R. Porras, et al. · American Journal of Medical Genetics Part A
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Works count: 18
Citation count: 164
H-index: 6
I10-index: 4
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