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Published in Annals of neurology (01.11.2012)
Published in Annals of neurology (01.11.2012)
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Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review
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Published in Pediatric dermatology (01.05.2019)
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An 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly
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Published in Molecular syndromology (01.07.2021)
Published in Molecular syndromology (01.07.2021)
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An 88.8-kb Novel Deletion of 19q13.2 Encompassing the ATP1A3 Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly
García-Payá, Elena, Gutiérrez-Agulló, María, García-Prieto, Francisco F, Francés Ferre, Jorge
Published in Molecular syndromology (01.07.2021)
Published in Molecular syndromology (01.07.2021)
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Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes
Trujillo-Quintero, Juan Pablo, Gutiérrez-Agulló, María, Ochoa, Juan Pablo, Martínez-Martínez, Juan Gabriel, de Uña, David, García-Fernández, Amaya
Published in Revista española de cardiología (English ed.) (01.02.2019)
Published in Revista española de cardiología (English ed.) (01.02.2019)
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Síndrome de Brugada familiar asociado con una deleción completa de los genes SCN5A y SCN10A
Trujillo-Quintero, Juan Pablo, Gutiérrez-Agulló, María, Ochoa, Juan Pablo, Martínez-Martínez, Juan Gabriel, De Uña, David, García-Fernández, Amaya
Published in Revista española de cardiologia (01.02.2019)
Published in Revista española de cardiologia (01.02.2019)
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