학술논문
'학술논문'
에서 검색결과 43건 | 목록
1~10
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse
Periodical
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p
Academic Journal
Almousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Goezde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C.
Academic Journal
Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Genomics, Task Force for Neonatal; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D
American Journal of Human Genetics. 103(5)
Academic Journal
Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P.L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard I.; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J.; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; MacLennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C.
American Journal of Human Genetics. October 7, 2021, Vol. 108 Issue 10, 2006
Academic Journal
Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; López-Giráldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.
Nature Genetics. 52(10):1046-1056
Academic Journal
Carvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O.; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G.; Caruso, Paul A.; Lin, Angela E.; Jansen, Floor E.; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H.; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E.; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C.; Kruer, Michael C.
Academic Journal
Wagner, Matias; Osborn, Daniel P. S.; Gehweiler, Ina; Nagel, Maike; Ulmer, Ulrike; Bakhtiari, Somayeh; Amouri, Rim; Boostani, Reza; Hentati, Faycal; Hockley, Maryam M.; Hoelbling, Benedikt; Schwarzmayr, Thomas; Karimiani, Ehsan Ghayoor; Kernstock, Christoph; Maroofian, Reza; Mueller-Felber, Wolfgang; Ozkan, Ege; Padilla-Lopez, Sergio; Reich, Selina; Reichbauer, Jennifer; Darvish, Hossein; Shahmohammadibeni, Neda; Tafakhori, Abbas; Vill, Katharina; Zuchner, Stephan; Kruer, Michael C.; Winkelmann, Juliane; Jamshidi, Yalda; Schuele, Rebecca
Academic Journal
Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; López-Giráldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.
Nature Genetics. 53(3):412-412
Academic Journal
Martín-Montalvo, Alejandro; Gonzalez-Mariscal, Isabel; Pomares-Viciana, Teresa; Padilla-López, Sergio; Ballesteros, Manuel; Vazquez-Fonseca, Luis; Gandolfo, Pablo; Brautigan, David L.; Navas, Placido; Santos-Ocana, Carlos
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[AR] Padilla-Lopez, Sergio
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