Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations von Santos, M., Mrasek, K., Madrigal, I., Martorell, M.R., González-Meneses, A., Rodríguez-Criado, G., Milà, M., Liehr, T., Fuster, C.

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype von Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

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Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study von Cadenas-Benitez, N M, Yanes-Sosa, F, Gonzalez-Meneses, A, Cerrillos, L, Acosta, D, Praena-Fernandez, J M, Neth, O, Gomez de Terreros, I, Ybot-González, P

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Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases von Fenollar-Cortés, M, Lara-Orejas, E, González-Meneses, A, Ruibal-Francisco, J L, Trujillo-Tiebas, M J

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HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation von Gripp, Karen W., Lin, Angela E., Stabley, Deborah L., Nicholson, Linda, Scott Jr, Charles I., Doyle, Daniel, Aoki, Yoko, Matsubara, Yoichi, Zackai, Elaine H., Lapunzina, Pablo, Gonzalez-Meneses, Antonio, Holbrook, Jennifer, Agresta, Cynthia A., Gonzalez, Iris L., Sol-Church, Katia

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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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HTA130 Value Contribution of Olipudase Alfa Therapy for the Treatment of Non-Central Nervous System Manifestations of Acid Sphingomyelinase Deficiency (ASMD) by Multi-Criteria Deci... von Abad, MR, González-Meneses, A, Gras, E, Poveda, JL, Trillo, JL, de Vicente, D, Villarubia, J, Baret, M, Badia, X

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El diagnóstico clínico-molecular en la hipoplasia de cartílago-pelo: dos nuevos casos von Fenollar-Cortés, M, Lara-Orejas, E, González-Meneses, A, Ruibal-Francisco, J.L, Trujillo-Tiebas, M.J

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Algorithmic and Geometric Topics Around Free Groups and Automorphisms von Aramayona, Javier, Diekert, Volker, Leininger, Christopher J, Silva, Pedro V, Weiß, Armin, González-Meneses, Juan, Lustig, Martin, Ventura, Enric

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Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study von Villarrubia, J., Morales, M., Ceberio, L., Vitoria, I., Bellusci, M., Quiñones, I., Peña, L., Ruiz de Valbuena, M., O’Callaghan, M., Buno Ramilo, B., Contento, A., Pérez de Pedro, I., Villalón Blanco, L., Muñoz Delgado, C., del Carmen Mendoza Sánchez, M., Gonzalez-Meneses, A., Gómez Toboso, D., de Vicente, M., Rodríguez, A., Antonio Pérez de León, J., Solanich, X.

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Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome von Rodríguez‐Criado, Germán, Magano, Luis, Segovia, Mabel, Gurrieri, Fiorella, Neri, Giovanni, González‐Meneses, Antonio, Gómez de Terreros, Ignacio, Valdéz, Rita, Gracia, Ricardo, Lapunzina, Pablo

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Extended Abstracts Fall 2012: Automorphisms of Free Groups von González-Meneses, Juan, Lustig, Martin, Ventura, Enric

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Infantile systemic hyalinosis: A clinicopathological study von Criado, Germán Rodríguez, González-Meneses, Antonio, Cañadas, Manuela, Rafel, Enrique, Yanes, Francisco, de Terreros, Ignacio Gómez

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MuPix and ATLASPix -- Architectures and Results von Schöning, A, Anders, J, Augustin, H, Benoit, M, Berger, N, Dittmeier, S, Ehrler, F, Fehr, A, Golling, T, Sevilla, S. Gonzalez, Hammerich, J, Herkert, A, Huth, L, Iacobucci, G, Immig, D, Kiehn, M, Kröger, J, Meier, F, Gonzalez, A. Meneses, Miucci, A, Noehte, L. O. S, Peric, I, Prathapan, M, Rudzki, T, Schimassek, R, Sultan, DMS, Vigani, L, Weber, A, Weber, M, Wong, W, Zaffaroni, E, Zhangh, H

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals von Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

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Combinación de acidemia metilmalónica y homocisteinuria: a propósito de un caso von Jiménez Varo, Ignacio, Bueno Delgado, María, Dios Fuentes, Elena, Delgado Pecellin, Carmen, González Meneses, Antonio, Soto Moreno, Alfonso, Venegas Moreno, Eva

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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) von Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose', Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A M E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M P, van der Ploeg, Ans T

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International survey for assessing COVID-19’s impact on fear and health: study protocol von Lok, Kris Yuet-Wan, Fong, Daniel Yee Tak, Wong, Janet Y.H., Ho, Mandy, Choi, Edmond PH, Pandian, Vinciya, Davidson, Patricia M, Duan, Wenjie, Tarrant, Marie, Lee, Jung Jae, Lin, Chia-Chin

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MuPix and ATLASPix -- Architectures and Results von Schöning, A, Anders, J, Augustin, H, Benoit, M, Berger, N, Dittmeier, S, Ehrler, F, Fehr, A, Golling, T, S Gonzalez Sevilla, Hammerich, J, Herkert, A, Huth, L, Iacobucci, G, Immig, D, Kiehn, M, Kröger, J, Meier, F, A Meneses Gonzalez, Miucci, A, Noehte, L O S, Peric, I, Prathapan, M, Rudzki, T, Schimassek, R, Sultan, DMS, Vigani, L, Weber, A, Weber, M, Wong, W, Zaffaroni, E, Zhangh, H

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The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) von Jones, Simon A., Parini, Rossella, Harmatz, Paul, Giugliani, Roberto, Fang, Juanzhi, Mendelsohn, Nancy J.

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