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Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions Sentchordi-Montane, Lucia; Diaz-Gonzalez, Francisca; Modamio-Hoybjor, Silvia; Nevado, Julian; Machado-Fernandes, Flavia; Carcavilla, Atilano; Salcedo, Maria; Saraiva, Jorge; Kant, Sarina G.; de Bruin, Christian; van Duyvenvoorde, Hermine A.; Gonzalez-Cabaleiro, Iris; Rey-Cordo, Lourdes; Chamorro-Martin, Jose Luis; Cancela-Muniz, Vanesa; Alcon-Saez, Jose Juan; Parron-Pajares, Manuel; Sousa, Sergio B.; Heath, Karen E. 分享 收藏
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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta Moosa, Shahida; Yamamoto, Guilherme L.; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sergio B.; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S.; Kim, Chong Ae; de Menezes, Hamilton Cabral; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval, Jr.; Bezerra Carniero, Tulio Canella; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; Semler, Oliver; Beleggia, Filippo; Li, Yun; Yigit, Goekhan; Reintjes, Nadine; Altmueller, Janine; Nuernberg, Peter; Cavalcanti, Denise P.; Zabel, Bernhard; Warman, Matthew L.; Bertola, Debora R.; Wollnik, Bernd; Netzer, Christian 分享 收藏
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome (vol 95, pg 611, 2014) Thomas, Anna C.; Williams, Hywel; Seto-Salvia, Nuria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J.; Pai, Yun Jin; Saraiva, Jorge M.; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W.; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Sousa, Sergio B.; Stanier, Philip 分享 收藏
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome White, Janson; Mazzeu, Juliana F.; Hoischen, Alexander; Jhangiani, Shalini N.; Gambin, Tomasz; Alcino, Michele Calijorne; Penney, Samantha; Saraiva, Jorge M.; Hove, Hanne; Skovby, Flemming; Kayserili, Hulya; Estrella, Elicia; Vulto-van Silfhout, Anneke T.; Steehouwer, Marloes; Muzny, Donna M.; Sutton, V. Reid; Gibbs, Richard A.; Lupski, James R.; Brunner, Han G.; van Bon, Bregje W. M.; Carvalho, Claudia M. B. 分享 收藏
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome Thomas, Anna C.; Williams, Hywel; Seto-Salvia, Nuria; Bacchelli, Chiara; Jenkins, Dagan; O'Sullivan, Mary; Mengrelis, Konstantinos; Ishida, Miho; Ocaka, Louise; Chanudet, Estelle; James, Chela; Lescai, Francesco; Anderson, Glenn; Morrogh, Deborah; Ryten, Mina; Duncan, Andrew J.; Pai, Yun Jin; Saraiva, Jorge M.; Ramos, Fabiana; Farren, Bernadette; Saunders, Dawn; Vernay, Bertrand; Gissen, Paul; Straatmaan-Iwanowska, Anna; Baas, Frank; Wood, Nicholas W.; Hersheson, Joshua; Houlden, Henry; Hurst, Jane; Scott, Richard; Bitner-Glindzicz, Maria; Moore, Gudrun E.; Sousa, Sergio B.; Stanier, Philip 分享 收藏
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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Sousa, Sergio B.; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M.; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlova, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L.; Vance, Jean E.; Moore, Gudrun E. 分享 收藏
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Morimoto, Marie; Yu, Zhongxin; Stenzel, Peter; Clewing, J. Marietta; Najafian, Behzad; Mayfield, Christy; Hendson, Glenda; Weinkauf, Justin G.; Gormley, Andrew K.; Parham, David M.; Ponniah, Umakumaran; Andre, Jean-Luc; Asakura, Yumi; Basiratnia, Mitra; Bogdanovic, Radovan; Bokenkamp, Arend; Bonneau, Dominique; Buck, Anna; Charrow, Joel; Cochat, Pierre; Cordeiro, Isabel; Deschenes, Georges; Fenkci, M. Semin; Frange, Pierre; Fruend, Stefan; Fryssira, Helen; Guillen-Navarro, Encarna; Keller, Kory; Kirmani, Salman; Kobelka, Christine; Lamfers, Petra; Levtchenko, Elena; Lewis, David B.; Massella, Laura; McLeod, D. Ross; Milford, David V.; Nobili, Francois; Saraiva, Jorge M.; Semerci, C. Nur; Shoemaker, Lawrence; Stajic, Natasa; Stein, Anja; Taha, Doris; Wand, Dorothea; Zonana, Jonathan; Luecke, Thomas; Boerkoel, Cornelius F. 分享 收藏
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Schimke immunoosseous dysplasia: defining skeletal features Hunter, Kshamta B.; Luecke, Thomas; Spranger, Juergen; Smithson, Sarah F.; Alpay, Harika; Andre, Jean-Luc; Asakura, Yumi; Bogdanovic, Radovan; Bonneau, Dominique; Cairns, Robyn; Cransberg, Karlien; Fruend, Stefan; Fryssira, Helen; Goodman, David; Helmke, Knut; Hinkelmann, Barbara; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Mayfield, Christy; Pontz, Bertram F.; Rusu, Cristina; Saraiva, Jorge M.; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Stajic, Natasa; Taha, Doris; Boerkoel, Cornelius F. 分享 收藏
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) Zweier, Christiane; Peippo, Maarit M.; Hoyer, Juliane; Sousa, Sergio; Bottani, Armand; Clayton-Smith, Jill; Reardon, William; Saraiva, Jorge; Cabral, Alexandra; Goehring, Ina; Devriendt, Koen; de Ravel, Thomy; Bijlsma, Emilia K.; Hennekam, Raoul C. M.; Orrico, Alfredo; Cohen, Monika; Dreweke, Alexander; Reis, Andre; Nuernberg, Peter; Rauch, Anita 分享 收藏
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