Publications by authors named "J Bengoa"

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Benchmarking parametric models of disease progression for early detection of cognitive decline.
Carlos Platero, Jorge Bengoa

Comput Methods Programs Biomed· February 2026

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[Thinking about transcultural prenatal genetic counseling].
Giulia Barcia, Sophie Monnot, Roxana Borghese, Joana Bengoa, Isam Idris

Soins Pediatr Pueric· May 2025

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COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Joana Bengoa

Mol Genet Genomic Med· April 2025

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An European overview of genetic counselling supervision provision.
Milena Paneque, Lídia Guimarães, Joana Bengoa, Sara Pasalodos, Christophe Cordier

Eur J Med Genet· April 2023

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Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Valerie Cormier-Daire, Moeenaldeen AlSayed, Inês Alves, Joana Bengoa, Tawfeg Ben-Omran

Orphanet J Rare Dis· July 2022

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