학술논문
'학술논문'
에서 검색결과 104건 | 목록
1~10
Academic Journal
Adang, Laura Ann; Sevagamoorthy, Anjana; Sherbini, Omar; Fraser, Jamie L.; Bonkowsky, Joshua L.; Gavazzi, Francesco; D'Aiello, Russel; Modesti, Nicholson B.; Yu, Emily; Mutua, Sylvia; Kotes, Emma; Shults, Justine; Vincent, Ariel; Emrick, Lisa T.; Keller, Stephanie; Van Haren, Keith P.; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L.; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline
In Molecular Genetics and Metabolism May 2024 142(1)
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke; Vulto-van Silfhout, Anneke T.; Cappuyns, Elisa; van der Werf, Ilse M.; Mancini, Grazia M.; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E.; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B.A.; Küry, Sébastien; Rosenfeld, Jill A.; Meuwissen, Marije E.; Vandeweyer, Geert; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Sevagamoorthy, Anjana; Gavazzi, Francesco; Sherbini, Omar; Vincent, Ariel; D'Aiello, Russel; Modesti, Nicholson; Mutua, Sylvia; Yu, Emily; Woidill, Sarah; Schmidt, Johanna L.; Pizzino, Amy; Shults, Justine; Vanderver, Adeline; Adang, Laura A.
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Bryant, Laura; Li, Dong; Cox, Samuel G; Marchione, Dylan; Joiner, Evan F; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J; Wadley, Alexandrea; Mancini, Grazia MS; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Monaghan, Kristin G; DDD Study; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Care4Rare Canada Consortium; Costain, Gregory; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; CAUSES Study; Martin, Martin G; Martinez-Agosto, Julian A; Undiagnosed Diseases Network; Nelson, Stan F; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, KE
Science advances. 6(49)
Academic Journal
Gonzalez, Carlos Dominguez; Sanderson, Leslie E.; Depace, Raffaella; Helman, Guy; Wu, Kaiyuan; Disanza, Brianna; Pizzino, Amy; Schmidt, Johanna; Muirhead, Kayla; Bonkowsky, Joshua; Taft, Ryan; Sannaa, Nouriya; Dias, Patrícia; Mutlu, Mehmet Burak; Bertoli-Avella, Aida M.; Maroofian, Reza; Barakat, Tahsin Stefan; Bhoj, Elizabeth; Ahrens-Nicklas, Rebecca; Simons, Cas
Academic Journal
Vanderver, Adeline; Gavazzi, Francesco; Charsar, Brittany; Erler, Jacqueline; Patel, Virali; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Wassmer, Evangeline; Tonduti, Davide; Houlden, Henry; Bernard, Geneviève; Wolf, Nicole; van der Knaap, Marjo; Shults, Justine; Adang, Laura
Academic Journal
Stellingwerff, Menno D.; Nulton, Corinne; Helman, Guy; Roosendaal, Stefan D.; Benko, William S.; Pizzino, Amy; Bugiani, Marianna; Vanderver, Adeline; Simons, Cas; van der Knaap, Marjo S.
Academic Journal
Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M.L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krageloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Moron, Dolores Gonzalez; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; Piana, Roberta La; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I.; Moutton, Sebastien; Murphy, Raymond P.J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I.; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole I.; Bernard, Genevieve
Journal of Clinical Endocrinology & Metabolism. February 2021, Vol. 106 Issue 2, pe660, 15 p.
Academic Journal
Helman, Guy; Zerem, Ayelet; Almad, Akshata; Hacker, Julia L.; Woidill, Sarah; Sase, Sunetra; LeFevre, Alexandra N.; Ekstein, Josef; Johansson, Martin M.; Stutterd, Chloe A.; Taft, Ryan J.; Simons, Cas; Grinspan, Judith B.; Pizzino, Amy; Schmidt, Johanna L.; Harding, Brian; Hirsch, Yoel; Viaene, Angela N.; Fattal-Valevski, Aviva; Vanderver, Adeline
Academic Journal
Pizzino, Amy; Pierson, Tyler Mark; Guo, Yiran; Helman, Guy; Fortini, Sebastian; Guerrero, Kether; Saitta, Sulagna; Murphy, Jennifer Louise Patrick; Padiath, Quasar; Xie, Yi; Hakonarson, Hakon; Xu, Xun; Funari, Tara; Fox, Michelle; Taft, Ryan J; van der Knaap, Marjo S; Bernard, Geneviève; Schiffmann, Raphael; Simons, Cas; Vanderver, Adeline
Neurology. 83(10)
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[AR] Pizzino, Amy
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