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European Journal of Human Genetics (7)
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Showing 1–10 of 10 results

Advanced filters: Author: Beatriz Martínez-Delgado Clear advanced filters

A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis

Arancha Cebrián
Sergio Ruíz-Llorente
Mercedes Robledo
Research01 Apr 2002
Journal of Human Genetics

Volume: 47, P: 190-195
Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1

Aránzazu Cebrián
Jose Luis Herrera-Pombo
Mercedes Robledo
Research22 Jun 1999
European Journal of Human Genetics

Volume: 7, P: 585-589
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease

This Perspective presents the Solve-RD Solvathon model, an innovative, pan-European framework uniting clinical and bioinformatics experts to diagnose rare diseases through integrative multiomics analysis and structured collaboration.

Vicente A. Yépez
German Demidov
Holm Graessner
Reviews09 Sept 2025
Nature Genetics

Volume: 57, P: 2361-2370
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
Amendments and Corrections13 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1459-1461
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
Amendments and Corrections25 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1462-1465
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype–phenotype relationships

Carlos Rodríguez-Martín
Cristina Robledo
Javier Alonso
Research26 Nov 2019
Journal of Human Genetics

Volume: 65, P: 165-174
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
ReviewsOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1325-1331
Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
ReviewsOpen Access10 May 2021
European Journal of Human Genetics

Volume: 29, P: 1332-1336