Concepedia

Jorge La Serna‐Infantes

JL

Statistics

Publications

3

Citations

46

H-Index

3

Active since

2018

Affiliations

Instituto Nacional de Salud del Niño(Current)

Hospital Base Guillermo Almenara Irigoyen

Jorge La Serna‐Infantes is an author at Instituto Nacional de Salud del Niño specializing in medicine, genomics, and clinical genetics.

ORCID

Top concepts

Publications per year

2018–2021

3

Publications

3

A novel <i>ASPH</i> variant extends the phenotype of Shawaf‐Traboulsi syndrome

Hugo Hernán Abarca-Barriga, Nathaly Caballero, Milana Trubnykova et al. · American Journal of Medical Genetics Part A · 2018 · 23 citations

Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3

Jorge La Serna‐Infantes, Miguel Chávez Pastor, Milana Trubnykova et al. · European Journal of Medical Genetics · 2018 · 13 citations

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MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

María L. Guevara, Francia Huaman‐Dianderas, Daisy Obispo et al. · Molecular Genetics & Genomic Medicine · 2021 · 10 citations · Full text

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