María
López Martínez
Publicaciones en las que colabora con María López Martínez (3)
2019
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New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients
Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 11
2018
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Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
BMC Medical Genetics, Vol. 19, Núm. 1
2015
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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Human Genome Variation, Vol. 2, Núm. 1