학술논문
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Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernandez-Garcia, Andres; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Cuevas, July K. Jean; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabiola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M. R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B. A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P. A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E. M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M., Jr.; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E. L. M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd, Jr.; Tartaglia, Marco
Academic Journal
Drube, Jens; Wan, Mandy; Bonthuis, Marjolein; Wuhl, Elke; Bacchetta, Justine; Santos, Fernando; Grenda, Ryszard; Edefonti, Alberto; Harambat, Jerome; Shroff, Rukshana; Tonshoff, Burkhard; Haffner, Dieter; Schnabel, D.; Linglart, A.; Rees, L.; Cochat, P.; Brauner, C.; Renault, D.; Romano, L. N.; Colling, G.; Prytula, A.; Leifheit-Nestler, M.; Klaus, G.; Schmitt, C. P.; Stabouli, S.; Reusz, G.; Verrina, E.; Groothoff, J.; Anton-Gamero, M.; Petrosyan, E.; Bakkaloglu, S. A.; Dursun, I.; Booth, C.; Aufricht, C.; Vande Walle, J.; Vondrak, K.; Holtta, T.; Ranchin, B.; Fischbach, M.; Stefanidis, C.; Kyriakou, A.; Printza, N.; Paglialonga, F.; Vidal, E.; Allinovi, M.; Jankauskiene, A.; Zurowska, A.; Faria, M. Do Sameiro; Ariceta, G.; Sartz, L.; Bakkaloglu, S.; Bayazit, A. K.; Duzova, A.; Knops, N.; Raees, A.; Zieg, J.; Pape, L.; Melk, A.; Dello, L.; Guzzo, I.; Ghio, L.; Murer, L.; Peruzzi, L.; Bouts, A.; Cornelissen, M.; Lopez-Baez, Victor; Soylemezoglu, O.; Topaloglu, R.; Christian, M.; Marks, S.; European Soc Paediat Nephrology; Chronic Kidney Dis Mineral Bone D; Dialysis & Transplantat Workin
Academic Journal
Hart, Elaine; Ahmed, Naeem; Buggy, Donal J; Buerkle, Hartmut; Baez, Elke; Aken, Hugo Van; Gogarten, Wiebke; Jenkins, Gareth
The Lancet. Nov 17, 2001, Vol. 358 Issue 9294, p1725
Academic Journal
Erk, Benjamin; Mueller, Jan P.; Bomme, Cedric; Boll, Rebecca; Brenner, Guenter; Chapman, Henry N.; Correa, Jonathan; Duesterer, Stefan; Dziarzhytski, Siarhei; Eisebitt, Stefan; Graafsma, Heinz; Grunewald, Soeren; Gumprecht, Lars; Hartmann, Robert; Hauser, Guenter; Keitel, Barbara; Schmising, Clemens von Korff; Kuhlmann, Marion; Manschwetus, Bastian; Mercadier, Laurent; Mueller, Erland; Passow, Christopher; Ploenjes, Elke; Ramm, Daniel; Rompotis, Dimitrios; Rudenko, Artem; Rupp, Daniela; Sauppe, Mario; Siewert, Frank; Schlosser, Dieter; Strueder, Lothar; Swiderski, Angad; Techert, Simone; Tiedtke, Kai; Tilp, Thomas; Treusch, Rolf; Schlichting, Ilme; Ullrich, Joachim; Moshammer, Robert; Moeller, Thomas; Rolles, Daniel
Academic Journal
In The Lancet 16 November 2002 360(9345):1600-1600
Electronic Resource
Radio , F C , Pang , K , Ciolfi , A , Levy , M A , Hernández-García , A , Pedace , L , Pantaleoni , F , Liu , Z , de Boer , E , Jackson , A , Bruselles , A , McConkey , H , Stellacci , E , Lo Cicero , S , Motta , M , Carrozzo , R , Dentici , M L , McWalter , K , Desai , M , Monaghan , K G , Telegrafi , A , Philippe , C , Vitobello , A , Au , M , Grand , K , Sanchez-Lara , P A , Baez , J , Lindstrom , K , Kulch , P , Sebastian , J , Madan-Khetarpal , S , Roadhouse , C , MacKenzie , J J , Monteleone , B , Saunders , C J , Jean Cuevas , J K , Cross , L , Zhou , D , Hartley , T , Sawyer , S L , Monteiro , F P , Secches , T V , Kok , F , Schultz-Rogers , L E , Macke , E L , Morava , E , Klee , E W , Kemppainen , J , Iascone , M , Selicorni , A , Tenconi , R , Amor , D J , Pais , L , Gallacher , L , Turnpenny , P D , Stals , K , Ellard , S , Cabet , S , Lesca , G , Pascal , J , Steindl , K , Ravid , S , Weiss , K , Castle , A M R , Carter , M T , Kalsner , L , de Vries , B B A , van Bon , B W , Wevers , M R , Pfundt , R , Stegmann , A P A , Kerr , B , Kingston , H M , Chandler , K E , Sheehan , W , Elias , A F , Shinde , D N , Towne , M C , Robin , N H , Goodloe , D , Vanderver , A , Sherbini , O , Bluske , K , Hagelstrom , R T , Zanus , C , Faletra , F , Musante , L , Kurtz-Nelson , E C , Earl , R K , Anderlid , B M , Morin , G , van Slegtenhorst , M , Diderich , K E M , Brooks , A S , Gribnau , J , Boers , R G , Finestra , T R , Carter , L B , Rauch , A , Gasparini , P , Boycott , K M , Barakat , T S , Graham , J M , Faivre , L , Banka , S , Wang , T , Eichler , E E , Priolo , M , Dallapiccola , B , Vissers , L E L M , Sadikovic , B , Scott , D A , Holder , J L & Tartaglia , M 2021 , ' SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females ' , American Journal of Human Genetics , vol. 108 , no. 3 , pp. 502-516 .
Academic Journal
Matthews, Maggie; Kohner, Nancy; Kersting, Anette; Fisch, Silvia; Baez, Elke; McCabe, Angela; Ambuehl, Erika; Brooks, Deborah; Hughes, P; Turton, P; Hopper, E; Evans, C D H; Cottone, Mario; Orlando, Ambrogio; Casà, Angelo; Oliva, Lorenzo; Hanauer, Stephen B; Abbate, Antonio; Biondi-Zoccai, Giuseppe G L; Baldi, Alfonso
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