학술논문
'학술논문'
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1~10
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Academic Journal
Jain, Vani; Foo, Seow Hoong; Chooi, Stephen; Moss, Celia; Goodwin, Richard; Berland, Siren; Clarke, Angus J.; Davies, Sally J.; Corrin, Sian; Murch, Oliver; Doyle, Samantha; Graham, Gail E.; Greenhalgh, Lynn; Holder, Susan E.; Johnson, Diana; Kumar, Ajith; Ladda, Roger L.; Sell, Susan; Begtrup, Amber; Lynch, Sally A.; McCann, Emma; Østern, Rune; Pottinger, Caroline; Splitt, Miranda; Fry, Andrew E.
European Journal of Human Genetics. 31(12):1421-1429
Academic Journal
Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Gabau Vila, Elisabeth; Mak, Bryan C; Martinez-Agosto, Julian A; Gorin, Michael B; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia MB; Vengoechea, Jaime E; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano, Pasquale; Nigro, Vincenzo; Severino, Mariasavina; Capra, Valeria; Costain, Gregory; Nagata, Koh Ichi
Brain : a journal of neurology. 145(9)
Academic Journal
Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad YV; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Consortium, Care4Rare Canada; Consortium, Genomics England Research; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger
American Journal of Human Genetics. 108(6)
Academic Journal
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
Academic Journal
Malbos, Marlene; Vera, Gabriella; Sheth, Harsh; Schnur, Rhonda E.; Juven, Aurelien; Brehin, Anne-Claire; Sheth, Jayesh; Gandhi, Ajit; Shapiro, Faye L.; Bruel, Ange-Line; Marguet, Florent; Begtrup, Amber; Monaghan, Kristin G.; Safraou, Hana; Brasseur-Daudruy, Marie; Mau-Them, Frederic Tran; Duffourd, Yannis; Faivre, Laurence; Thauvin-Robinet, Christel; Benke, Paul J.; Philippe, Christophe
Academic Journal
Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos PN; van Lint, Alida EM; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Undiagnosed Diseases Network; Waisfisz, Quinten; Zwijnenburg, Petra JG; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine HC; Wanders, Ronald JA; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
Academic Journal
Ghosh, Shereen G; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna CE; Lane Rutledge, S; Goodloe, Dana H; McDonald, Marie T; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patrícia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y; Zaki, Maha S; Maroofian, Reza; Gleeson, Joseph G
European Journal of Human Genetics. 29(2)
Academic Journal
Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B.; Agre, Katherine E.; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R.; Muppidi, Srikanth; Pichurin, Pavel N.; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P.; Rödström, Karin E. J.; Hahn, Michael G.; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E.; Wright, Caroline F.; Tucker, Stephen J.
Nature Genetics. 54(10):1534-1543
Academic Journal
Smallwood, Kelly; Watt, Kristin E.N.; Ide, Satoru; Baltrunaite, Kristina; Brunswick, Chad; Inskeep, Katherine; Capannari, Corrine; Adam, Margaret P.; Begtrup, Amber; Bertola, Debora R.; Demmer, Laurie; Demo, Erin; Devinsky, Orrin; Gallagher, Emily R.; Guillen Sacoto, Maria J.; Jech, Robert; Keren, Boris; Kussmann, Jennifer; Ladda, Roger; Lansdon, Lisa A.; Lunke, Sebastian; Mardy, Anne; McWalters, Kirsty; Person, Richard; Raiti, Laura; Saitoh, Noriko; Saunders, Carol J.; Schnur, Rhonda; Skorvanek, Matej; Sell, Susan L.; Slavotinek, Anne; Sullivan, Bonnie R.; Stark, Zornitza; Symonds, Joseph D.; Wenger, Tara; Weber, Sacha; Whalen, Sandra; White, Susan M.; Winkelmann, Juliane; Zech, Michael; Zeidler, Shimriet; Maeshima, Kazuhiro; Stottmann, Rolf W.; Trainor, Paul A.; Weaver, K. Nicole
In The American Journal of Human Genetics 4 May 2023 110(5):809-825
Academic Journal
Hengel, Holger; Bosso-Lefèvre, Célia; Grady, George; Szenker-Ravi, Emmanuelle; Li, Hankun; Pierce, Sarah; Lebigot, Élise; Tan, Thong-Teck; Eio, Michelle Y; Narayanan, Gunaseelan; Utami, Kagistia Hana; Yau, Monica; Handal, Nader; Deigendesch, Werner; Keimer, Reinhard; Marzouqa, Hiyam M; Gunay-Aygun, Meral; Muriello, Michael J; Verhelst, Helene; Weckhuysen, Sarah; Mahida, Sonal; Naidu, Sakkubai; Thomas, Terrence G; Lim, Jiin Ying; Tan, Ee Shien; Haye, Damien; Willemsen, Michèl AAP; Oegema, Renske; Mitchell, Wendy G; Pierson, Tyler Mark; Andrews, Marisa V; Willing, Marcia C; Rodan, Lance H; Barakat, Tahsin Stefan; van Slegtenhorst, Marjon; Gavrilova, Ralitza H; Martinelli, Diego; Gilboa, Tal; Tamim, Abdullah M; Hashem, Mais O; AlSayed, Moeenaldeen D; Abdulrahim, Maha M; Al-Owain, Mohammed; Awaji, Ali; Mahmoud, Adel AH; Faqeih, Eissa A; Asmari, Ali Al; Algain, Sulwan M; Jad, Lamyaa A; Aldhalaan, Hesham M; Helbig, Ingo; Koolen, David A; Riess, Angelika; Kraegeloh-Mann, Ingeborg; Bauer, Peter; Gulsuner, Suleyman; Stamberger, Hannah; Ng, Alvin Yu Jin; Tang, Sha; Tohari, Sumanty; Keren, Boris; Schultz-Rogers, Laura E; Klee, Eric W; Barresi, Sabina; Tartaglia, Marco; Mor-Shaked, Hagar; Maddirevula, Sateesh; Begtrup, Amber; Telegrafi, Aida; Pfundt, Rolph; Schüle, Rebecca; Ciruna, Brian; Bonnard, Carine; Pouladi, Mahmoud A; Stewart, James C; Claridge-Chang, Adam; Lefeber, Dirk J; Alkuraya, Fowzan S; Mathuru, Ajay S; Venkatesh, Byrappa; Barycki, Joseph J; Simpson, Melanie A; Jamuar, Saumya S; Schöls, Ludger; Reversade, Bruno
Nature communications. 11(1)
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