학술논문
'학술논문'
에서 검색결과 183건 | 목록
1~10
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
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
Roos, Dirk; van Leeuwen, Karin; Hsu, Amy P.; Priel, Debra Long; Begtrup, Amber; Brandon, Rhonda; Rawat, Amit; Vignesh, Pandiarajan; Madkaikar, Manesha; Stasia, Marie José; Bakri, Faris Ghalib; de Boer, Martin; Roesler, Joachim; Köker, Nezihe; Köker, M. Yavuz; Jakobsen, Marianne; Bustamante, Jacinta; Garcia-Morato, Maria Bravo; Shephard, Juan Luis Valdivieso; Cagdas, Deniz; Tezcan, Ilhan; Sherkat, Roya; Mortaz, Esmaeil; Fayezi, Abbas; Shahrooei, Mohammad; Wolach, Baruch; Blancas-Galicia, Lizbeth; Kanegane, Hirokazu; Kawai, Toshinao; Condino-Neto, Antonio; Vihinen, Mauno; Zerbe, Christa S.; Holland, Steven M.; Malech, Harry L.; Gallin, John I.; Kuhns, Douglas B.
In Blood Cells, Molecules and Diseases December 2021 92
Academic Journal
Roos, Dirk; van Leeuwen, Karin; Hsu, Amy P.; Priel, Debra Long; Begtrup, Amber; Brandon, Rhonda; Stasia, Marie José; Bakri, Faris Ghalib; Köker, Nezihe; Köker, M. Yavuz; Madkaika, Manisha; de Boer, Martin; Garcia-Morato, Maria Bravo; Shephard, Juan Luis Valdivieso; Roesler, Joachim; Kanegane, Hirokazu; Kawai, Toshinao; Di Matteo, Gigliola; Shahrooei, Mohammad; Bustamante, Jacinta; Rawat, Amit; Vignesh, Pandiarajan; Mortaz, Esmaeil; Fayezi, Abbas; Cagdas, Deniz; Tezcan, Ilhan; Kitcharoensakkul, Maleewan; Dinauer, Mary C.; Meyts, Isabelle; Wolach, Baruch; Condino-Neto, Antonio; Zerbe, Christa S.; Holland, Steven M.; Malech, Harry L.; Gallin, John I.; Kuhns, Douglas B.
In Blood Cells, Molecules and Diseases September 2021 90
Academic Journal
Flex, Elisabetta; Martinelli, Simone; Van Dijck, Anke; Ciolfi, Andrea; Cecchetti, Serena; Coluzzi, Elisa; Pannone, Luca; Andreoli, Cristina; Radio, Francesca Clementina; Pizzi, Simone; Carpentieri, Giovanna; Bruselles, Alessandro; Catanzaro, Giuseppina; Pedace, Lucia; Miele, Evelina; Carcarino, Elena; Ge, Xiaoyan; Chijiwa, Chieko; Lewis, M.E. Suzanne; Meuwissen, Marije; Kenis, Sandra; Van der Aa, Nathalie; Larson, Austin; Brown, Kathleen; Wasserstein, Melissa P.; Skotko, Brian G.; Begtrup, Amber; Person, Richard; Karayiorgou, Maria; Roos, J. Louw; Van Gassen, Koen L.; Koopmans, Marije; Bijlsma, Emilia K.; Santen, Gijs W.E.; Barge-Schaapveld, Daniela Q.C.M.; Ruivenkamp, Claudia A.L.; Hoffer, Mariette J.V.; Lalani, Seema R.; Streff, Haley; Craigen, William J.; Graham, Brett H.; van den Elzen, Annette P.M.; Kamphuis, Daan J.; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; Wojcik, Monica H.; Viberti, Clara; Di Gaetano, Cornelia; Bertini, Enrico; Petrucci, Simona; De Luca, Alessandro; Rota, Rossella; Ferretti, Elisabetta; Matullo, Giuseppe; Dallapiccola, Bruno; Sgura, Antonella; Walkiewicz, Magdalena; Kooy, R. Frank; Tartaglia, Marco
In The American Journal of Human Genetics 5 September 2019 105(3):493-508
Academic Journal
Costantini, Alice; Valta, Helena; Baratang, Nissan Vida; Yap, Patrick; Bertola, Débora R.; Yamamoto, Guilherme L.; Kim, Chong A.; Chen, Jiani; Wierenga, Klaas J.; Fanning, Elizabeth A.; Escobar, Luis; McWalter, Kirsty; McLaughlin, Heather; Willaert, Rebecca; Begtrup, Amber; Alm, Jessica J.; Reinhardt, Dieter P.; Mäkitie, Outi; Campeau, Philippe M.
In Bone April 2019 121:163-171
Academic Journal
Hankey, William; Worley, Lindsay; Hilliard, Kyle; McNulty, Shannon; Peng, Xiao; Romberg, Neil; Puel, Anne; Begtrup, Amber; Nieto-Patlán, Alejandro
In Clinical Immunology May 2023 250 Supplement
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)
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
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)
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