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Beatriz Villafuerte
Beatriz Villafuerte
Autonomous University of Madrid
Genetics
Biology
Brain-Lung-Thyroid Syndrome
SNP
Immunodeficiency
2
Papers
4
Citations
0
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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
Beatriz Villafuerte
Daniel Natera-de Benito
Aidy González
María A. Mori
María Palomares
Julián Nevado
Sixto García-Miñaur
Pablo Lapunzina
Luis Ignacio Gonzalez-Granado
Luis M. Allende
José Carlos Moreno
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Citations (4)
Identification of a [ldquo]Cryptic[rdquo] De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays
2016
Beatriz Villafuerte
Benito Daniel Natera de
Nerea Lacamara
Marta García
César Lumbreras
Randamie Raje de
Julián Nevado
José C. Moreno
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