未登录 A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis Hojland, Allan Thomas; Tavernier, Lisse J. M.; Schrauwen, Isabelle; Sommen, Manou; Topsakal, Vedat; Schatteman, Isabelle; Dhooge, Ingeborg; Huber, Alex; Zanetti, Diego; Kunst, Henricus P. M.; Hoischen, Alexander; Petersen, Michael B.; Van Camp, Guy; Fransen, Erik 分享 收藏
分享 收藏
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy Batzir, Nurit Assia; Bhagwat, Pranjali Kishor; Larson, Austin; Akdemir, Zeynep Coban; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Colon, Yazmin Enchautegui; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; Jhangiani, Shalini N.; Isidor, Bertrand; Littlejohn, Rebecca O.; Liu, Pengfei; Magoulas, Pilar; Fan, Helen Mar; Marom, Ronit; McLean, Scott; Nezarati, Marjan M.; Nugent, Kimberly M.; Petersen, Michael B.; Rocha, Maria L.; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O.; Posey, Jennifer E.; Lupski, James R.; Beaudet, Arthur L.; Wangler, Michael F. 分享 收藏
分享 收藏
The spectrum of intermediate SCN8A-related epilepsy Johannesen, Katrine M.; Gardena, Elena; Encinas, Alejandra C.; Lehesjoki, Anna-Enna; Linnankivi, Tarja; Petersen, Michael B.; Lund, Ida Charlotte Bay; Blichfeldt, Susanne; Miranda, Maria J.; Pal, Deb K.; Lascelles, Karine; Procopis, Peter; Orsini, Alessandro; Bonuccelli, Alice; Giacomini, Thea; Helbig, Ingo; Fenger, Christina D.; Sisodiya, Sanjay M.; Hernandez-Hernandez, Laura; Krithika, Sundararaman; Rumple, Melissa; Masnada, Silvia; Valente, Marialuisa; Cereda, Cristina; Giordano, Lucio; Accorsi, Patrizia; Burki, Sarah; Mancardi, Margherita; Korff, Christian; Guerrini, Renzo; von Spiczak, Sarah; Hoffman-Zacharska, Dorota; Mazurczak, Tomasz; Coppola, Antonietta; Buono, Salvatore; Vecchi, Marilena; Hammer, Michael F.; Varesio, Costanza; Veggiotti, Pierangelo; Lal, Dennis; Bruenger, Tobias; Zara, Federico; Striano, Pasquale; Rohholi, Guido; Moller, Rikke S. 分享 收藏
Genotype-Phenotype Correlations, Dystonia and Disease Progression in Spinocerebellar Ataxia Type 14 Chelban, Viorica; Wiethoff, Sarah; Fabian-Jessing, Bjorn K.; Haridy, Nourelhoda A.; Khan, Alaa; Efthymiou, Stephanie; Becker, Esther B. E.; O'Connor, Emer; Hersheson, Joshua; Newland, Katrina; Hojland, Allan Thomas; Gregersen, Pernille A.; Lindquist, Suzanne G.; Petersen, Michael B.; Nielsen, Jorgen E.; Nielsen, Michael; Wood, Nicholas W.; Giunti, Paola; Houlden, Henry 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Gil-Rodriguez, Maria Concepcion; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillen-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Perez-Aytes, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pie, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A. 分享 收藏
SLITRK6 mutations cause myopia and deafness in humans and mice Tekin, Mustafa; Chioza, Barry A.; Matsumoto, Yoshifumi; Diaz-Horta, Oscar; Cross, Harold E.; Duman, Duygu; Kokotas, Haris; Moore-Barton, Heather L.; Sakoori, Kazuto; Ota, Maya; Odaka, Yuri S.; Foster, Joseph, II; Cengiz, F. Basak; Tokgoz-Yilmaz, Suna; Tekeli, Oya; Grigoriadou, Maria; Petersen, Michael B.; Sreekantan-Nair, Ajith; Gurtz, Kay; Xia, Xia-Juan; Pandya, Arti; Patton, Michael A.; Young, Juan I.; Aruga, Jun; Crosby, Andrew H. 分享 收藏
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome Malfait, Fransiska; Symoens, Sofie; Goemans, Nathalie; Gyftodimou, Yolanda; Holmberg, Eva; Lopez-Gonzalez, Vanesa; Mortier, Geert; Nampoothiri, Sheela; Petersen, Michael Bjorn; De Paepe, Anne 分享 收藏
分享 收藏
分享 收藏
Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection Patrinos, George P.; Al Aama, Jumana; Al Aqeel, Aida; Al-Mulla, Fahd; Borg, Joseph; Devereux, Andrew; Felice, Alex E.; Macrae, Finlay; Marafie, Makia J.; Petersen, Michael B.; Qi, Ming; Ramesar, Rajkumar S.; Zlotogora, Joel; Cotton, Richard G. H. 分享 收藏
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing Naranjo, Silvia; Voesenek, Krysta; de la Calle-Mustienes, Elisa; Robert-Moreno, Alex; Kokotas, Haris; Grigoriadou, Maria; Economides, John; Van Camp, Guy; Hilgert, Nele; Moreno, Felipe; Alsina, Berta; Petersen, Michael B.; Kremer, Hannie; Luis Gomez-Skarmeta, Jose 分享 收藏
分享 收藏
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome Parri, Veronica; Katzaki, Eleni; Uliana, Vera; Scionti, Francesca; Tita, Rossella; Artuso, Rosangela; Longo, Ilaria; Boschloo, Renske; Vijzelaar, Raymon; Selicorni, Angelo; Brancati, Francesco; Dallapiccola, Bruno; Zelante, Leopoldo; Hamel, Christian P.; Sarda, Pierre; Lalani, Seema R.; Grasso, Rita; Buoni, Sabrina; Hayek, Joussef; Servais, Laurent; de Vries, Bert B. A.; Georgoudi, Nelly; Nakou, Sheena; Petersen, Michael B.; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca 分享 收藏
A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss Sirmaci, Asli; Erbek, Seyra; Price, Justin; Huang, Mingqian; Duman, Duygu; Cengiz, F. Basak; Bademci, Gueney; Tokgoz-Yilmaz, Suna; Hismi, Burcu; Ozdag, Hilal; Ozturk, Banu; Kulaksizoglu, Sevsen; Yildirim, Erkan; Kokotas, Haris; Grigoriadou, Maria; Petersen, Michael B.; Shahin, Hashem; Kanaan, Moien; King, Mary-Claire; Chen, Zheng-Yi; Blanton, Susan H.; Liu, Xue Z.; Zuchner, Stephan; Akar, Nejat; Tekin, Mustafa 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
