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Research Interests

Papers共 31 篇Author StatisticsCo-AuthorSimilar Experts

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WES (Whole Exome Sequencing) diagnostic revealed the absence of SRY gene in a patient with a 47,XXY karyotype and a female phenotype
Sandra Garcia-Herrero,Alba Velo, Gemma Cartagena,Marina Martinez-Matilla, Jesus Ferre-Fernandez, Maria Berbel,Rocio Garcia-Jimenez, Iryna Boyko,Eva Barroso, Daniel Sanchez-Valero, Carmen Fernandez-Vizcaino,Cristian Perez-Garcia,
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 236-237
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Clinical impact in 120 undiagnosed cases of extending single proband WES to trio analysis
Monica Martinez-Garcia, Gema Gordo, Julia Gonzalez-Rincon, Celia Rodriguez-Solera,Irene Diez,Angel Carro, Iker Sanchez-Navarro,Eva Barroso, Guillermo Martin-Serrano,Marta Hervas, Andrea Fuente-Revenga,Pablo Solar,
EUROPEAN JOURNAL OF HUMAN GENETICS（2022）
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Development and clinical utility ofINGEMM custom panels
R. Martin Arenas,A. Escudero,A. Campos, A. del Pozo Mate, C. Prior, C. Pena, C. Gomez-Gonzalez,E. Barroso,E. Galvez,F. Santos-Simarro, F. Nieto,G. Gordo,
EUROPEAN JOURNAL OF HUMAN GENETICS（2019）
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