학술논문
'학술논문'
에서 검색결과 186건 | 목록
10~20
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
AlAbdi, Lama; Desbois, Muriel; Rusnac, Domniţa-Valeria; Sulaiman, Raashda A; Rosenfeld, Jill A; Lalani, Seema; Murdock, David R; Burrage, Lindsay C; Network, Undiagnosed Diseases; Au, Ping Yee Billie; Towner, Shelley; Wilson, William G; Wong, Lawrence; Brunet, Theresa; Strobl-Wildemann, Gertrud; Burton, Jennifer E; Hoganson, George; McWalter, Kirsty; Begtrup, Amber; Zarate, Yuri A
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)
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
Roessler, Franziska; Beck, Anita E.; Susie, Ball; Tobias, Bartolomaeus; Begtrup, Amber; Biskup, Saskia; Caluseriu, Oana; Delanty, Norman; Fröhlich, Christine; Greally, Marie T.; Karnstedt, Maike; Klöckner, Chiara; Kurtzberg, Joanne; Schubert, Susanna; Schulze, Martin; Weidenbach, Michael; Westphal, Dominik S.; White, Maire; Wolf, Cordula M.; Zyskind, Jacob
American Journal of Medical Genetics. Part A; Feb2023, Vol. 191 Issue 2, p469-478, 10p
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)
Academic Journal
Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; De Crescenzo, Angelo Harlan; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Buttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christele; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quelin, Chloe; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan KC; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martinez-Cerdeno, Veronica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami
Academic Journal
Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; De Crescenzo, Angelo Harlan; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan KC; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami
Brain. 142(9)
Academic Journal
Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber; Wentzensen, Ingrid; Crunk, Amy; Nicholls, Robert; Deignan, Joshua; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Østern, Rune; Houge, Gunnar; Hafström, Maria; Fassi, Emily; Houlden, Henry; Klein Wassink-Ruiter, Jolien; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory; Martinez, Jose; Finnila, Candice; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han; Lindhout, Dick; Au, Margaret; Graham, John; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques; Lessard, Julie; Ernst, Carl; Campeau, Philippe; Herman, Kristin
American Journal of Human Genetics. 104(5)
Academic Journal
Johnstone, Devon L; Al-Shekaili, Hilal H; Tarailo-Graovac, Maja; Wolf, Nicole I; Ivy, Autumn S; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo WT; Kernohan, Kristin D; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A; Olson, Heather; Sigurdardottir, Laufey Yr; Arnold, Georgianne L; Gerkes, Erica H; Boon, M; Heiner-Fokkema, M Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A; Kamsteeg, Erik-Jan; Drögemöller, Britt; Ross, Colin J; Majewski, Jacek; Cho, Megan T; Begtrup, Amber; Wasserman, Wyeth W; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M; Wevers, Ron A; van Faassen, Martijn; Kema, Ido P; Lepage, Nathalie; Lines, Matthew A; Dyment, David A; Wanders, Ronald JA; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M; Friedman, Jan M; Pena, Izabella A; van Karnebeek, Clara DM
Brain. 142(3)
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[AR] Begtrup, Amber
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