Departamento
Departamento de Ciencias Forenses, Anatomía Patológica, Ginecología y Obstetricia y Pediatría
Publicaciones (13) Publicaciones en las que ha participado algún/a investigador/a
2013
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A Xq21.31 duplication without features of Prader-Willi syndrome
Endocrine
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Adrenal carcinoma: A retrospective analysis of our series
Endocrinologia y Nutricion
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BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency
Clinical Genetics
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CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families
Clinical and Translational Oncology
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Corrigendum
Carcinogenesis
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Enfermedad de alpers juvenil
Revista de Neurologia
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Giant cell arteritis of the thyroid gland as first evidence of systemic disease
Journal of Clinical Endocrinology and Metabolism
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Immunisation against meningococcus B: the case of Spain
The Lancet
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Intrathecal baclofen for progressive neurological disease in children
European Journal of Paediatric Neurology
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Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia
Revista de Neurologia
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Microdeleción 2q23.1 y hallazgos sindrómicos
Revista de Neurologia
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New guidelines for the publication of genetic population data
Forensic Science International: Genetics
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Oculocutaneous albinism 1B associated with a new mutation in the TYR gene
Anales de Pediatria