Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder von Frints, Suzanna G. M., Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas, Field, Michael, Manouvrier-Hanu, Sylvie, E. Hickey, Scott, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, Annick, Mihalic Mosher, Theresa, Kelly, Benjamin J., White, Peter, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C, van Roozendaal, Kees E. P., Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef, Golzio, Christelle, Gontan, Cristina, Kalscheuer, Vera M.

Volltext

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells von Ho, Bianca, Greenlaw, Keelin, Al Tuwaijri, Abeer, Moussette, Sanny, Martínez, Francisco, Giorgio, Elisa, Brusco, Alfredo, Ferrero, Giovanni Battista, Linhares, Natália D, Valadares, Eugênia R, Svartman, Marta, Kalscheuer, Vera M, Rodríguez Criado, Germán, Laprise, Catherine, Greenwood, Celia M T, Naumova, Anna K

Volltext

Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome von Fernández, Luis, Lapunzina, Pablo, Pajares, Isidora López, Criado, Germán Rodríguez, García‐Guereta, Luis, Pérez, Jesús, Quero, José, Delicado, Alicia

Volltext

Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) von Rufo-Campos, Miguel, Riveros-Huckstadt, Pilar, RodrÍguez-Criado, Germán, Hernández-Soto, RocÍo

Volltext

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

Volltext

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

Volltext

X-linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum von De Falco, Francesca, Cainarca, Silvia, Andolfi, Grazia, Ferrentino, Rosa, Berti, Caterina, Rodríguez Criado, German, Rittinger, Olaf, Dennis, Nick, Odent, Sylvie, Rastogi, Amit, Liebelt, Jan, Chitayat, David, Winter, Robin, Jawanda, Harindar, Ballabio, Andrea, Franco, Brunella, Meroni, Germana

Volltext

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex von LUKONG, K. E, ELSLIGER, M.-A, PALMERI, S, PSHEZHETSKY, A. V, YUAN CHANG, RICHARD, C, THOMAS, G, CAREY, W, TYLKI-SZYMANSKA, A, CZARTORYSKA, B, BUCHHOLZ, T, CRIADO, G. R

Volltext

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder von Frints, Suzanna G.M, Ozanturk, Aysegul, Rodriguez Criado, German, Grasshoff, Ute, de Hoon, Bas, Field, Michael, Manouvrier-Hanu, Sylvie, Hickey, Scott E, Kammoun, Molka, Gripp, Karen W, Bauer, Claudia, Schroeder, Christopher, Toutain, Annick, Mosher, Theresa Mihalic, Kelly, Benjamin J, White, Peter, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C, van Roozendaal, Kees E.P, Hu, Hao, Haas, Stefan A, Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef, Golzio, Christelle, Gontan, Cristina, Kalscheuer, Vera M

Volltext

Agenesia del cuerpo calloso y crisis epilépticas von Nieto Barrera, Manuel, Rodríguez Criado, Germán, Carballo Cordero, Manuel

Volltext

Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers von Criado, Germán Rodríguez, Aytés, Antonio Pérez

Volltext

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

Volltext

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome von Fernández, Luis, Lapunzina, Pablo, Pajares, Isidora López, Criado, Germán Rodríguez, García-Guereta, Luis, Pérez, Jesús, Quero, José, Delicado, Alicia

Volltext