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María Carmen Cotarelo Pérez

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Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts

2021 International Journal of Molecular Sciences
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MECP2 Duplications in Symptomatic Females Report on 3 Patients Showing the Broad Phenotypic Spectrum

2016
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Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

2009 European Journal of Endocrinology
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