Browsing Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 by Author "GARCÍA-MIÑAÚR, Sixto"
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The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
DOUZGOU, Sofia; DELL'ORO, Janet; FONSECA, Cristina Rodriguez ...(European Journal of Human Genetics. vol. 30, n° 7, pp. 841-847, 2022-07-01)Article de revue -
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
LACOMBE, Didier; BLOCH-ZUPAN, Agnès; BREDRUP, Cecilie ...(Journal of Medical Genetics. vol. 61, n° 6, pp. 503-519, 2024-05-21)Article de revueOpen access