Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts
Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, Cortón, Marta
Published in International journal of molecular sciences (24.11.2021)
Published in International journal of molecular sciences (24.11.2021)
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Journal Article
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome
Fernández-Rebollo, Eduardo, Pérez, Olga, Martinez-Bouzas, Cristina, Cotarelo-Pérez, Maria Carmen, Garin, Intza, Ruibal, Jose Luis, Pérez-Nanclares, Gustavo, Castaño, Luis, Pérez de Nanclares, Guiomar
Published in European journal of endocrinology (01.04.2009)
Published in European journal of endocrinology (01.04.2009)
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MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum
San Antonio-Arce, Victoria, Fenollar-Cortés, María, Oancea Ionescu, Raluca, DeSantos-Moreno, Teresa, Gallego-Merlo, Jesús, Illana Cámara, Francisco José, Cotarelo Pérez, María Carmen
Published in Child neurology open (01.01.2016)
Published in Child neurology open (01.01.2016)
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