Hum Genet DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria instname HUMAN GENETICS r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe Instituto de Investigación Sanitaria La Fe (IIS La Fe) Universidad Francisco de Vitoria DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria Zaguán. Repositorio Digital de la Universidad de Zaragoza Universidad de Zaragoza Digital.CSIC. Repositorio Institucional del CSIC Consejo Superior de Investigaciones Científicas (CSIC) Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
Hum Mutat Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563 Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, ' Further delineation of Malan syndrome ', Human Mutation, vol. 39, no. 9, pp. 1226-1237 . https://doi.org/10.1002/humu.23563
Zaguán. Repositorio Digital de la Universidad de Zaragoza instname Universidad de Zaragoza Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics, Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279 American Journal of Medical Genetics. Part A, 173, 8, pp. 2108-2125 Huisman, S, Mulder, P A, Redeker, E, Bader, I, Bisgaard, A M, Brooks, A, Cereda, A, Cinca, C, Clark, D, Cormier-Daire, V, Deardorff, M A, Diderich, K, Elting, M, van Essen, A, FitzPatrick, D, Gervasini, C, Gillessen-Kaesbach, G, Girisha, K M, Hilhorst-Hofstee, Y, Hopman, S, Horn, D, Isrie, M, Jansen, S, Jespersgaard, C, Kaiser, F J, Kaur, M, Kleefstra, T, Krantz, I D, Lakeman, P, Landlust, A, Lessel, D, Michot, C, Moss, J, Noon, S E, Oliver, C, Parenti, I, Pie, J, Ramos, F J, Rieubland, C, Russo, S, Selicorni, A, Tümer, Z, Vorstenbosch, R, Wenger, T L, van Balkom, I, Piening, S, Wierzba, J & Hennekam, R C 2017, ' Phenotypes and genotypes in individuals with SMC1A variants ', American Journal of Medical Genetics Part A, vol. 173, no. 8, pp. 2108-2125 . https://doi.org/10.1002/ajmg.a.38279