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NPJ Genom Med. 2024;9(1):49.
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Gigascience. 2024;13:giae058
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Mov Disord Clin Pract. 2024;11(6):708–15.
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HGG Adv. 2023;4(2):100186
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J Clin Invest. 2023;133(10):e165019.
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Eur J Med Genet. 2022;65(1):104402.
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Eur J Hum Genet. 2021;29(9):1332–6.
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Eur J Hum Genet. 2021;29(9):1359–68.
Solve-RD: Systematic pan-European data sharing and collaborative analysis to solve rare diseases.
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Eur J Hum Genet. 2021;29(9):1337–47.
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Am J Med Genet A. 2021;185(3):877–83.
Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity.
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SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
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SpainUDP: Un programa de casos de enfermedades raras sin diagnóstico.
López-Martín, E., Posada, M.
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