Abnormal bone turnover in individuals with low serum alkaline phosphatase von López-Delgado, L., Riancho-Zarrabeitia, L., García-Unzueta, M. T., Tenorio, J. A., García-Hoyos, M., Lapunzina, P., Valero, C., Riancho, J. A.

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Diverging results of areal and volumetric bone mineral density in Down syndrome von García-Hoyos, M., García-Unzueta, M. T., de Luis, D., Valero, C., Riancho, J. A.

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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations von Natera-de Benito, D, Bestué, M, Vilchez, J.J, Evangelista, T, Töpf, A, García-Ribes, A, Trujillo-Tiebas, M.J, García-Hoyos, M, Ortez, C, Camacho, A, Jiménez, E, Dusl, M, Abicht, A, Lochmüller, H, Colomer, J, Nascimento, A

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Gene symbol: RPGR. Disease: Retinitis Pigmentosa von Giménez, Ascensión, Riveiro, R, Trujillo-Tiebas, M J, Aguirre, J, Avila, A, García-Hoyos, M, Ayuso, C

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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma von González-González, M. C., García-Hoyos, M., Trujillo, M.J., Rodríguez de Alba, M., Lorda-Sánchez, I., Díaz-Recasens, J., Gallardo, E., Ayuso, C., Ramos, C.

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Gene symbol: CHM. Disease: Choroideraemia von Villaverde, Cristina, Trujillo-Tiebas, M J, López-Martinez, M A, Giménez-Pardo, A, Cantalapiedra, D, Vallespin, E, García-Hoyos, M, Ayuso, C

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Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR von González-González, M. C., Trujillo, M. J., Rodríguez de Alba, M., García-Hoyos, M., Lorda-Sánchez, I., Díaz-Recasens, J., Ayuso, C., Ramos, C.

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New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation von García‐Hoyos, M., Sanz, R., Diego‐Álvarez, D., Lorda‐Sánchez, I., Trujillo‐Tiebas, M.J., Cantalapiedra, D., Ramos, C., Ayuso, C.

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Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa von Bernal, S, Calaf, M, Garcia-Hoyos, M, Garcia-Sandoval, B, Rosell, J, Adan, A, Ayuso, C, Baiget, M

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Gene symbol: RP2 von Villaverde-Montero, Cristina, García-Hoyos, M, Giménez-Pardo, A, Trujillo-Tiebas, M J, Baiget, M, Ayuso, C

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Breast glandular density in dual-energy contrast-enhanced mammography: Effect of cladding in the calibration procedure von Hoyos-García, A. M., Castillo-López, J. P., Pacheco-Guevara, G., Villaseñor-Navarro, Y., Brandan, M. E.

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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis von Vallespin, E, Avila-Fernandez, A, Almoguera, B, Velez-Monsalve, C, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA) von Vallespin, Elena, Avila-Fernandez, A, Almoguera, B, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro-Alvarez, R, Aguirre-Lamban, J, Bustamante-Aragones, A, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Cantalapiedra, D, Garcia-Hoyos, M, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease von Aguirre-Lamban, Jana, Riveiro-Alvarez, R, Garcia-Hoyos, M, Cantalapiedra, D, Martinez-Garcia, M, Vallespin, E, Avila-Fernandez, A, Villaverde-Montero, C, Trujillo-Tiebas, M J, Ayuso, C

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Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia von Villaverde, Cristina, Trujillo-Tiebas, M J, Garcia-Hoyos, M, Perez, N, Narvaiza, R C, Guillén, E, Ayuso, C

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Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510 von Vallespin, E, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro, R, Villaverde, C, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0540 von Vallespin, E, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro, R, Queipo, A, Trujillo-Tiebas, M J, Ayuso, C

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Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534 von Vallespin, E, Cantalapiedra, D, Garcia-Hoyos, M, Riveiro, R, Villaverde, C, Trujillo-Tiebas, M J, Ayuso, C

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Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach von Diego-Alvarez, Dan, Ramos-Corrales, Carmen, Garcia-Hoyos, Maria, Bustamante-Aragones, Ana, Cantalapiedra, Diego, Diaz-Recasens, Joaquin, Vallespin-Garcia, Elena, Ayuso, Carmen, Lorda-Sanchez, Isabel

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