NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases von Perea-Romero, I., Blanco-Kelly, F., Sanchez-Navarro, I., Lorda-Sanchez, I., Tahsin-Swafiri, S., Avila-Fernandez, A., Martin-Merida, I., Trujillo-Tiebas, M. J., Lopez-Rodriguez, R., Rodriguez de Alba, M., Iancu, I. F., Romero, R., Quinodoz, M., Hakonarson, H., Garcia-Sandova, Blanca, Minguez, P., Corton, M., Rivolta, C., Ayuso, C.

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African/Amazonian Proterozoic correlations of Iberia: A detrital zircon U-Pb study of early Cambrian conglomerates from the Sierra de la Demanda (northern Spain) von Ábalos, B., Gil Ibarguchi, J. I., Sánchez-Lorda, M. E., Paquette, J. L.

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Concomitant measurement of 143Nd/144Nd and 147Sm/144Nd ratios without isotope dilution in geological samples: An assessment of MC-ICP-MS capabilities von Sánchez-Lorda, M.E., de Madinabeitia, S. García, Pin, C., Ibarguchi, J.I. Gil

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Simultaneous determination of major to ultratrace elements in geological samples by fusion-dissolution and inductively coupled plasma mass spectrometry techniques von Madinabeitia, S. García de, Lorda, M.E. Sánchez, Ibarguchi, J.I. Gil

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis von Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar

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Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect? von Robinson, W.P., Lorda-Sanchez, I., Malcolm, S., Langlois, S., Schuffenhauer, S., Knoblauch, H., Horsthemke, B., Schinzel, A.A.

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An evaluation of Rb-Sr isotope dilution analyses with a 86Sr-enriched tracer and Multiple Collection-ICP-MS von Beranoaguirre, Aratz, Pin, Christian, Sanchez-Lorda, Maria Eugenia, García de Madinabeitia, Sonia, Gil Ibarguchi, Jose Ignacio

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Technological flows and choice of joint ventures in technology alliances von García-Canal, Esteban, Valdés-Llaneza, Ana, Sánchez-Lorda, Pablo

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Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study von Perea-Romero, I., Fernández-Caballero, L., Iancu, I.F., Rodilla, C., Martín-Mérida, I., Ávila-Fernández, A., Almoguera, B., Riveiro-Álvarez, R., Trujillo-Tiebas, M.J., Lorda-Sánchez, I., Tahsin-Swafiri, S., López-Grondona, F., Sánchez, A.I., Blanco-Kelly, F., Pozo-Valero, M., Mínguez, P., Millán, J.M., Martín-Gutiérrez, P., Jiménez-Rolando, B., Carreño, E., García-Sandoval, B., Cortón, M., Ayuso, C.

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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call von Bellusci, Marcello, Paredes-Fuentes, Abraham J, Ruiz-Pesini, Eduardo, Gómez, Beatriz, Martín, Miguel A, Montoya, Julio, Artuch, Rafael

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Guidelines for genetic study of aniridia von Blanco-Kelly, F, Villaverde-Montero, C, Lorda-Sánchez, I, Millán, J.M, Trujillo-Tiebas, M.J, Ayuso, C

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Geochemistry and paleotectonic setting of Ediacaran metabasites from the Ossa-Morena Zone (SW Iberia) von Sánchez Lorda, M. E., Sarrionandia, F., Ábalos, B., Carrracedo, M., Eguíluz, L., Gil Ibarguchi, J. I.

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Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome von LORDA-SANCHEZ, I., PRIETO, L., RODRIGUEZ-PINILLA, E., MARTINEZ-FRÍ AS, M. L.

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A small and active ring x chromosome in a female with features of Kabuki syndrome von Rodríguez, L., Diego‐Alvarez, D., Lorda‐Sanchez, I., Gallardo, F.L., Martínez‐Fernández, M.L., Arroyo‐Muñoz, M.E., Martínez‐Frías, M.L.

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Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations von Moya‐Martínez, C., Núñez‐Hipólito, L., Barrio‐González, S., Santonja, C., Jo‐Velasco, M., Lorda‐Sánchez, I., Fariña‐Sabaris, M. C., Requena, L.

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Radiometric discrimination of pre-Variscan amphibolites in the Ediacaran Serie Negra (Ossa-Morena Zone, SW Iberia) von Sánchez-Lorda, M.E., Ábalos, B., García de Madinabeitia, S., Eguíluz, L., Gil Ibarguchi, J.I., Paquette, J.-L.

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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene von Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.

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Stock Market Response to Acquisitions and Alliances in the European Telecom Industry: An Information Asymmetry Perspective von Pablo S&aacute, nchez-Lorda

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Prenatal diagnosis of 46, XX male fetus von Trujillo-Tiebas, M J, González-González, C, Lorda-Sánchez, I, Querejeta, M E, Ayuso, C, Ramos, C

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Five years’ experience of the clinical exome sequencing in a Spanish single center von Arteche-López, A., Ávila-Fernández, A., Riveiro Álvarez, R., Almoguera, B., Bustamante Aragonés, A., Martin-Merida, I., López Martínez, M. A., Giménez Pardo, A., Vélez-Monsalve, C., Gallego Merlo, J., García Vara, I., Blanco-Kelly, F., Tahsin Swafiri, S., Lorda Sánchez, I., Trujillo Tiebas, M. J., Ayuso, C.

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