Torthaí cuardaigh - Intza Garin

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis de réir Arrate Pereda, Intza Garin, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares

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Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed? de réir Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares

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Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. de réir Intza Garin, Guiomar Perez de Nanclares, Elena Gastaldo, Lorna W Harries, Oscar Rubio-Cabezas, Luis Castaño

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Malabsorción de glucosa y galactosa. Nuevo caso en España de réir Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, Ariane Calvo-Saez, Idoya Martinez-Fernandez de Pinedo

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Glucose and galactose malabsorption: A new case in Spain de réir Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, Ariane Calvo-Saez, Idoya Martinez-Fernandez de Pinedo

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Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an inci... de réir Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez, Hiart Maortua, Almudena Callejo, Abigail Ruiz de Lobera, Alberto Muñoz, Nagore Miñambres, Pablo Jiménez-Labaig

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