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María Palomares

Autonomous University of Madrid

7

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157

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Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.

2020 Molecular Biology Reports
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

2018 American Journal of Medical Genetics Part A
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The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency

2018 European Journal of Medical Genetics
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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

2010 Human Mutation
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MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

2006 Clinical Genetics
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Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

2005 Clinical Genetics
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